Gene: PTEN
Alternate names for this Gene: 10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1
Gene Summary: This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 10
Location in Chromosome : 10q23.31
Description of this Gene: phosphatase and tensin homolog
Type of Gene: protein-coding
rs121909224 in
PTEN gene and
Adenocarcinoma of prostate
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1064793345 in
PTEN gene and
Autistic Disorder
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
rs3831732 in
PTEN gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs121909224 in
PTEN gene and
Brain Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 11274365 2001 PTEN controls tumor-induced angiogenesis.
PMID 24721394 2014 Combined PTEN Mutation and Protein Expression Associate with Overall and Disease-Free Survival of Glioblastoma Patients.
rs1064793345 in
PTEN gene and
CEREBELLOPARENCHYMAL DISORDER VI
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
rs1064793345 in
PTEN gene and
Cerebellar Granule Cell Hypertrophy and Megalencephaly
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
rs1057519724 in
PTEN gene and
Colorectal Neoplasms
PMID 22162582 2012 Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 19366826 2009 PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.
PMID 19903786 2009 PIK3CA mutations predict local recurrences in rectal cancer patients.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 15254419 2004 The PIK3CA gene is mutated with high frequency in human breast cancers.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Cutaneous Melanoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1554898088 in
PTEN gene and
Dysmorphic features
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.
PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
rs1234214 in
PTEN gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs121909235 in
PTEN gene and
GLIOMA SUSCEPTIBILITY 2
PMID 12085208 2002 A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
rs121909224 in
PTEN gene and
Gastric Adenocarcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Glioblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057517809 in
PTEN gene and
Hamartoma Syndrome, Multiple
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.
PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
PMID 29043291 2017 Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome.
PMID 20712882 2010 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
PMID 25527629 2015 Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 10051160 1999 Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.
PMID 15355975 2004 Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 10234502 1999 Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
PMID 11494117 2001 Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.
PMID 18716620 2008 The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.
PMID 11230179 2001 PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.
PMID 9735393 1998 Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.
PMID 9915974 1999 Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
PMID 9241266 1997 Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 9425889 1998 PTEN germ-line mutations in juvenile polyposis coli.
PMID 9832031 1998 Germline PTEN mutations in Cowden syndrome-like families.
PMID 9811831 1998 Here we report that a missense mutation in PTEN, PTEN-G129E, which is observed in two Cowden disease kindreds, specifically ablates the ability of PTEN to recognize inositol phospholipids as a substrate, suggesting that loss of the lipid phosphatase activity is responsible for the etiology of the disease.
PMID 9345101 1997 The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.
PMID 9600246 1998 The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.
PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
PMID 10923032 2000 Mutations of the human PTEN gene.
PMID 23335809 2013 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 9811831 1998 The lipid phosphatase activity of PTEN is critical for its tumor supressor function.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 10353779 1999 We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 25756585 2015 A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 17167516 2007 Cancer phenomics: RET and PTEN as illustrative models.
PMID 23613428 2013 When overgrowth bumps into cancer: the PTEN-opathies.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 19719509 2010 Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.
PMID 18080326 2008 Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
PMID 9288766 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 23117110 2013 Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.
PMID 9256433 1997 P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 16021145 2005 Cowden disease in a family: a clinical and genetic diagnosis.
PMID 24379037 2013 Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
PMID 10698513 2000 Inhibition of H-Ras transformation by the PTEN/MMAC1/TEP1 tumor suppressor gene.
PMID 24905788 2014 PTEN.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 23886400 2013 Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.
PMID 22520842 2012 "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."
PMID 22281088 2012 Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
PMID 10848731 2000 To the best of our knowledge, the C136R mutation has not previously been reported in CD patients.
PMID 25336918 2014 Posttranslational regulation of phosphatase and tensin homolog (PTEN) and its functional impact on cancer behaviors.
PMID 12297295 2002 Direct identification of PTEN phosphorylation sites.
PMID 11035045 2001 The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation.
PMID 25448482 2015 Kinases, tails and more: regulation of PTEN function by phosphorylation.
PMID 10866658 2000 Phosphorylation of the PTEN tail regulates protein stability and function.
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 11918710 2002 PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.
PMID 16619501 2006 Tumour suppressor PTEN regulates cell cycle and protein kinase B/Akt pathway in breast cancer cells.
PMID 10772829 2000 Cell cycle arrest by the PTEN tumor suppressor is target cell specific and may require protein phosphatase activity.
PMID 21291452 2012 PTEN in colorectal cancer: a report on two Cowden syndrome patients.
PMID 29706350 2018 A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
PMID 29785012 2018 Multiplex assessment of protein variant abundance by massively parallel sequencing.
rs12242772 in
PTEN gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs1064793345 in
PTEN gene and
Large head (disorder)
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
rs1064793345 in
PTEN gene and
Lhermitte-Duclos disease
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 25756585 2015 A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
rs1057519368 in
PTEN gene and
MACROCEPHALY/AUTISM SYNDROME
PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID 9832032 1998 Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
rs121909224 in
PTEN gene and
Malignant Uterine Corpus Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Malignant neoplasm of floor of mouth
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 21824802 2011 Mutational analysis of PTEN/PIK3CA/AKT pathway in oral squamous cell carcinoma.
rs1057519724 in
PTEN gene and
Mammary Neoplasms
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 20085938 2010 The PI3K pathway as drug target in human cancer.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs886041877 in
PTEN gene and
Movement Disorders
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.
PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.
PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
rs886041877 in
PTEN gene and
Multiple congenital anomalies
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.
PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.
PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
rs121909231 in
PTEN gene and
Muscle hypotonia
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
rs121909229 in
PTEN gene and
Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1060500122 in
PTEN gene and
Neoplastic Syndromes, Hereditary
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 20712882 2010 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 19968660 2010 Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.
PMID 23335809 2013 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
PMID 11071384 2000 Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.
PMID 21430697 2011 PTEN loss in the continuum of common cancers, rare syndromes and mouse models.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
PMID 16014636 2005 Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
PMID 26504226 2015 Discovery and functional characterization of a neomorphic PTEN mutation.
PMID 10920277 2000 Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 26432245 2015 A global reference for human genetic variation.
PMID 27082424 2016 Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions.
PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.
PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.
PMID 12938083 2003 PTEN: one gene, many syndromes.
PMID 24123798 2013 PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
PMID 15121767 2004 Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.
PMID 12920084 2003 De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 25549896 2015 Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
PMID 23124040 2013 Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling.
PMID 15211648 2004 Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.
PMID 16952599 2006 Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
PMID 25288137 2015 Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
PMID 28286253 2017 Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
PMID 20685300 2010 Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN.
PMID 17324556 2007 PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 22381246 2012 Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
PMID 23934601 2014 Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
PMID 23764071 2013 Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.
PMID 24345843 2014 Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 9915974 1999 Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
PMID 25527629 2015 Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
PMID 26798346 2015 Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21822720 2011 Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
PMID 22320991 2011 Genetic changes in the PTEN gene and their association with breast cancer in Pakistan.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22327138 2012 Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
PMID 20300775 2010 PTEN mutation spectrum in breast cancers and breast hyperplasia.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 19457929 2009 Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
PMID 15120218 2004 Association between Cowden syndrome and Lhermitte-Duclos disease: report of two cases and review of the literature.
PMID 16752378 2006 A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
PMID 27626691 2016 TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 19719509 2010 Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.
PMID 18080326 2008 Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
PMID 21291452 2012 PTEN in colorectal cancer: a report on two Cowden syndrome patients.
PMID 11332402 2001 The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
PMID 10807691 2000 Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers.
PMID 9288766 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
PMID 12415190 2002 Identification of germline mutation of PTEN gene and analysis of apoptosis resistance of the lymphocytes in a patient with Cowden disease.
PMID 24102544 2014 PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.
PMID 15372512 2004 Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.
PMID 10866658 2000 Phosphorylation of the PTEN tail regulates protein stability and function.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 24656806 2014 PTEN function: the long and the short of it.
PMID 24561254 2014 PTEN C-terminal deletion causes genomic instability and tumor development.
PMID 19461582 2009 Structural basis for ADP-mediated transcriptional regulation by P1 and P7 ParA.
PMID 15694342 2005 A tyrosyl-tRNA synthetase adapted to function in group I intron splicing by acquiring a new RNA binding surface.
PMID 24704020 2014 Prognostic significance of biallelic loss of PTEN in clear cell renal cell carcinoma.
PMID 22891331 2012 Resistance to EGF receptor inhibitors in glioblastoma mediated by phosphorylation of the PTEN tumor suppressor at tyrosine 240.
PMID 11886535 2001 Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 25246819 2014 Cowden syndrome presenting as breast cancer: imaging and clinical features.
PMID 19622968 2009 Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome.
PMID 25722288 2015 PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
PMID 20926450 2011 Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 21103832 2011 A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.
PMID 26795104 2018 A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report.
PMID 15659546 2005 Cellular transformation by the MSP58 oncogene is inhibited by its physical interaction with the PTEN tumor suppressor.
PMID 11156408 2000 Stabilization and productive positioning roles of the C2 domain of PTEN tumor suppressor.
PMID 11875759 2002 Protean PTEN: form and function.
PMID 17218261 2007 Ubiquitination regulates PTEN nuclear import and tumor suppression.
PMID 17218260 2007 NEDD4-1 is a proto-oncogenic ubiquitin ligase for PTEN.
PMID 18794879 2008 PTEN: a new guardian of the genome.
PMID 9797362 1998 Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.
PMID 18716620 2008 The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.
PMID 28526761 2017 A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
PMID 10923032 2000 Mutations of the human PTEN gene.
PMID 19604110 2009 Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.
PMID 23161105 2013 A new insight into structural and functional impact of single-nucleotide polymorphisms in PTEN gene.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 24744697 2014 Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 10076877 1999 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
PMID 11234884 2001 Mutations of PTEN/MMAC1 in primary prostate cancers from Chinese patients.
PMID 22473468 2012 The functions and regulation of the PTEN tumour suppressor.
PMID 11849740 2002 Assessment of the quality and frequency of mutations occurrence in PTEN gene in endometrial carcinomas and hyperplasias.
PMID 16894538 2006 Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
PMID 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
PMID 26076150 2015 Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care.
PMID 14675182 2003 A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.
PMID 17941496 2007 Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.
PMID 10848731 2000 A novel PTEN mutation in a Japanese patient with Cowden disease.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 22520842 2012 "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."
PMID 21343951 2011 Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.
PMID 22281088 2012 Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.
PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
PMID 10772390 2000 Germline PTEN mutations in three families with Cowden syndrome.
PMID 9425889 1998 PTEN germ-line mutations in juvenile polyposis coli.
PMID 18757403 2008 Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 17043057 2006 PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.
PMID 26787237 2016 Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 11918710 2002 PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.
PMID 20962022 2011 Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome.
PMID 22469695 2012 An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.
PMID 23117110 2013 Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.
PMID 18558293 2008 A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
PMID 28523199 2017 De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.
PMID 27514801 2016 Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B.
PMID 29296277 2017 Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
PMID 26246517 2015 Cowden's syndrome with immunodeficiency.
PMID 16704655 2006 Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
PMID 15951562 2005 Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases.
PMID 21266528 2011 A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.
PMID 23085752 2013 Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1.
rs121909219 in
PTEN gene and
Non-Small Cell Lung Carcinoma
PMID 20881644 2010 Somatic mutations in epidermal growth factor receptor signaling pathway genes in non-small cell lung cancers.
PMID 20085938 2010 The PI3K pathway as drug target in human cancer.
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 20018398 2010 PTEN mutations and relationship to EGFR, ERBB2, KRAS, and TP53 mutations in non-small cell lung cancers.
PMID 19351834 2009 PTEN loss contributes to erlotinib resistance in EGFR-mutant lung cancer by activation of Akt and EGFR.
PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.
PMID 9598803 1998 Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers.
rs1060500126 in
PTEN gene and
Overgrowth
PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.
PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.
PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
rs1057517809 in
PTEN gene and
PTEN Hamartoma Tumor Syndrome
PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.
PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
PMID 29706350 2018 A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
PMID 20712882 2010 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 12614768 2003 Retinal angioma in a patient with Cowden disease.
PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 27531073 2016 Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
PMID 23335809 2013 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 28526761 2017 A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
PMID 11052475 2000 Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients.
PMID 19968660 2010 Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 11071384 2000 Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
PMID 10234502 1999 Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 9241266 1997 Germline mutations in PTEN are present in Bannayan-Zonana syndrome.
PMID 18558293 2008 A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 10920277 2000 Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 8071972 1994 Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 9256433 1997 P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.
PMID 20194734 2010 Allele-specific tumor spectrum in pten knockin mice.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 17324556 2007 PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 28655553 2018 Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
PMID 10848731 2000 A novel PTEN mutation in a Japanese patient with Cowden disease.
PMID 24345843 2014 Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.
PMID 9856571 1998 Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
PMID 25875300 2015 A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.
PMID 9425889 1998 PTEN germ-line mutations in juvenile polyposis coli.
PMID 9832032 1998 Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
PMID 11875759 2002 Protean PTEN: form and function.
PMID 22327138 2012 Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
PMID 21822720 2011 Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
PMID 19457929 2009 Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
PMID 25527629 2015 Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
PMID 26798346 2015 Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.
PMID 9915974 1999 Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 23442912 2013 Defining the membrane-associated state of the PTEN tumor suppressor protein.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 11748304 2001 A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
PMID 29373119 2018 Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.
PMID 26579216 2015 Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.
PMID 25647146 2015 Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.
PMID 20718038 2010 A mutant form of PTEN linked to autism.
PMID 29785012 2018 Multiplex assessment of protein variant abundance by massively parallel sequencing.
PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
PMID 29706633 2018 A pathogenic role for germline PTEN variants which accumulate into the nucleus.
PMID 16752378 2006 A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.
PMID 25288137 2015 Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
PMID 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.
PMID 20962022 2011 Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 20533527 2010 Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
PMID 9619835 1998 PTEN mutations in gliomas and glioneuronal tumors.
PMID 23633456 2013 PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer.
PMID 26362251 2015 A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
PMID 9288766 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 24102544 2014 PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.
PMID 24641667 2014 Systemic lupus erythematosus in a patient with PTEN hamartoma tumour syndrome.
PMID 26246517 2015 Cowden's syndrome with immunodeficiency.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 25246819 2014 Cowden syndrome presenting as breast cancer: imaging and clinical features.
PMID 11918710 2002 PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.
PMID 21194575 2011 Lung disease in FLNA mutation: confirmatory report.
PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID 20926450 2011 Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.
PMID 9600246 1998 The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.
PMID 25722288 2015 PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
PMID 16704655 2006 Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.
PMID 21103832 2011 A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.
PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 12471211 2002 Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.
PMID 15372512 2004 Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.
PMID 23423780 2013 Autosomal Dominant Inherited Cowden's Disease in a Family.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 23934111 2013 De novo mutations in epileptic encephalopathies.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 10076877 1999 Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
PMID 16894538 2006 Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
PMID 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
PMID 14675182 2003 A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.
PMID 23886400 2013 Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.
PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
PMID 9735393 1998 Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.
PMID 17043057 2006 PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.
PMID 24379037 2013 Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
PMID 16021145 2005 Cowden disease in a family: a clinical and genetic diagnosis.
PMID 26185318 2015 Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.
rs1064793345 in
PTEN gene and
Proteus-Like Syndrome (disorder)
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
rs1064793345 in
PTEN gene and
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
PMID 21956414 2011 Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.
PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
rs121909224 in
PTEN gene and
Renal Cell Carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs12242772 in
PTEN gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs12242772 in
PTEN gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs121909224 in
PTEN gene and
Small cell carcinoma of lung
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Squamous cell carcinoma of lung
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Squamous cell carcinoma of the head and neck
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 11801303 2002 Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10.
rs77413490 in
PTEN gene and
Systolic Pressure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs121909224 in
PTEN gene and
Uterine Carcinosarcoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121909224 in
PTEN gene and
Uterine Cervical Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913293 in
PTEN gene and
VACTERL Association With Hydrocephalus
PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.
PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
PMID 17526800 2007 Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
rs59085061 in
PTEN gene and
White Blood Cell Count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs121909224 in
PTEN gene and
ovarian neoplasm
PMID 18767981 2009 PTEN and the PI3-kinase pathway in cancer.
PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.
PMID 20085938 2010 The PI3K pathway as drug target in human cancer.