Gene: CDKN2A

Alternate names for this Gene: ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16

Gene Summary: This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.3

Description of this Gene: cyclin dependent kinase inhibitor 2A

Type of Gene: protein-coding

rs1057519881 in CDKN2A gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519881 in CDKN2A gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519883 in CDKN2A gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519882 in CDKN2A gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894104 in CDKN2A gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs3731211 in CDKN2A gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519883 in CDKN2A gene and Esophageal carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs1057519881 in CDKN2A gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894094 in CDKN2A gene and Hereditary Melanoma PMID 20340136 2010 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

PMID 15146471 2004 Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

PMID 14679123 2004 INK4/ARF germline alterations in pancreatic cancer patients.

PMID 21801156 2011 Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

PMID 21462282 2011 Classifying variants of CDKN2A using computational and laboratory studies.

PMID 11807902 2002 High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.

PMID 10869234 2000 A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

PMID 16307646 2005 CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families.

PMID 9699728 1998 CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.

PMID 16905682 2007 Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

PMID 9328469 1997 Germline mutations of the CDKN2 gene in UK melanoma families.

PMID 17171691 2007 The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.

PMID 16896043 2006 The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.

PMID 8595405 1995 Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.

PMID 25370744 2014 A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility.

PMID 16234564 2005 Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 9389568 1997 CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein.

PMID 11595726 2001 Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.

PMID 18843795 2008 p16INK4a-induced senescence is disabled by melanoma-associated mutations.

PMID 17047042 2006 High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

PMID 18363633 2008 CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma.

PMID 8570179 1995 Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds.

PMID 15945100 2005 The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired.

PMID 26225579 2015 Novel CDKN2A mutations in Austrian melanoma patients.

PMID 23190892 2013 Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

PMID 10390011 1999 Mutation testing in melanoma families: INK4A, CDK4 and INK4D.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 7647780 1995 Mutations associated with familial melanoma impair p16INK4 function.

PMID 8668202 1996 The remaining two mutations, a G-to-W mutation at position 101 (Gl01W) and V126D, both of which are associated with familial melanoma, were found to be temperature sensitive for binding to Cdk4 and Cdk6 in vitro, for inhibiting cyclin D1-Cdk4 in a reconstituted pRb-kinase assay, and for increasing the proportion of G1-phase cells following transfection.

PMID 10389768 1999 All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay.

PMID 20653773 2010 Novel CDKN2A mutation detected in Spanish melanoma pedigree.

PMID 26681309 2016 Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

PMID 9425228 1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

PMID 19799798 2009 Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

PMID 19571771 2009 Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.

PMID 12700603 2003 A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

PMID 22841127 2012 Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

PMID 21893440 2011 Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

PMID 15150307 2004 Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

PMID 15235029 2004 Genetic susceptibility in familial melanoma from northeastern Italy.

PMID 17492760 2007 New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

PMID 9516223 1998 CDKN2A mutations in multiple primary melanomas.

PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

PMID 15009729 2004 CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.

PMID 11726555 2001 A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

PMID 17167857 2006 High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

PMID 24659262 2014 CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

PMID 9856841 1998 CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.

PMID 19712690 2009 Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation.

PMID 19260062 2009 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

PMID 26892650 2016 Hereditary melanoma: Update on syndromes and management: Genetics of familial atypical multiple mole melanoma syndrome.

PMID 7987387 1994 Germline p16 mutations in familial melanoma.

PMID 8668202 1996 Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.

PMID 18983535 2008 CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 28830827 2017 Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.

PMID 17055252 2007 Factors predicting the occurrence of germline mutations in candidate genes among patients with cutaneous malignant melanoma from South Italy.

PMID 9439668 1997 Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.

PMID 20539244 2010 Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain.

PMID 10389768 1999 Functional reassessment of P16 variants using a transfection-based assay.

PMID 25780468 2014 Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

PMID 7780957 1995 Mutational effects on the p16INK4a tumor suppressor protein.

PMID 16893909 2006 Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma.

PMID 27804060 2017 Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.

PMID 18023021 2008 Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas.

PMID 11556834 2001 CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

PMID 9916806 1999 Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.

PMID 16397522 2006 Population-based prevalence of CDKN2A mutations in Utah melanoma families.

PMID 10738302 2000 Mutation screening of the CDKN2A promoter in melanoma families.

PMID 18025365 2007 Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation.

PMID 19523171 2009 CDKN2A mutations in melanoma families from Uruguay.

PMID 18337833 2008 Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree.

PMID 20093296 2010 Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

PMID 17713569 2008 Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil.

PMID 10398427 1999 CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.

PMID 10719365 2000 Patients with both pancreatic adenocarcinoma and melanoma may harbor germline CDKN2A mutations.

PMID 20876876 2010 Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

PMID 12853981 2003 CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

PMID 14508519 2003 Germline splicing mutations of CDKN2A predispose to melanoma.

PMID 10627132 1998 Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

PMID 10861313 2000 Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.

PMID 9416844 1997 Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 8710906 1996 Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

PMID 7923152 1994 Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma.

PMID 15173226 2004 Prospective risk of cancer in CDKN2A germline mutation carriers.

PMID 21619050 2011 Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer.

PMID 8603820 1996 Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity.

PMID 10874641 1999 CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

PMID 15860862 2005 Role of the CDKN2A locus in patients with multiple primary melanomas.

PMID 26650572 2016 Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?

PMID 12352668 2002 Familial head and neck cancer: molecular analysis of a new clinical entity.

PMID 2319082 1990 Dietary habits, health beliefs, and food practices of elderly Chinese women.

PMID 24660985 2014 Genotype analysis in Hungarian patients with multiple primary melanoma.

PMID 20340316 1947 The premaxilla and the ancestry of man.

PMID 24935963 2014 High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

PMID 11319798 2001 Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.

PMID 10922411 2000 High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.

PMID 8653684 1996 Novel germline p16 mutation in familial malignant melanoma in southern Sweden.

PMID 27287845 2016 Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.

PMID 17624602 2007 BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.

PMID 17218939 2007 CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

PMID 16169933 2006 MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.

PMID 25877891 2015 Personalized genomic analyses for cancer mutation discovery and interpretation.

PMID 12454511 2002 CDKN2A germline mutations in familial pancreatic cancer.

PMID 10491434 1999 Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

PMID 10498896 1999 Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

PMID 19759551 2010 Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations.

PMID 28592523 2017 Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

PMID 11500805 2001 MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.

rs3731199 in CDKN2A gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1057519881 in CDKN2A gene and Liver carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs3731215 in CDKN2A gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3731211 in CDKN2A gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs104894094 in CDKN2A gene and MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 PMID 10651484 1998 Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online.

PMID 7987387 1994 Germline p16 mutations in familial melanoma.

PMID 9328469 1997 Germline mutations of the CDKN2 gene in UK melanoma families.

PMID 11506491 2001 A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 8653684 1996 Novel germline p16 mutation in familial malignant melanoma in southern Sweden.

PMID 8710906 1996 Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

PMID 12019208 2002 Germline mutation of ARF in a melanoma kindred.

PMID 9425228 1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

PMID 19260062 2009 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

PMID 8595405 1995 Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.

PMID 14646619 2003 A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

PMID 10874641 1999 CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

rs104894094 in CDKN2A gene and MELANOMA-PANCREATIC CANCER SYNDROME PMID 21462282 2011 Classifying variants of CDKN2A using computational and laboratory studies.

PMID 26381259 2015 Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome.

PMID 7647780 1995 Mutations associated with familial melanoma impair p16INK4 function.

PMID 10389768 1999 Functional reassessment of P16 variants using a transfection-based assay.

PMID 26681309 2016 Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

PMID 19260062 2009 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

PMID 7987387 1994 Germline p16 mutations in familial melanoma.

PMID 26775776 2016 Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

PMID 10869234 2000 A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

PMID 25645574 2015 ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.

PMID 20340136 2010 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 11815963 2002 Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.

PMID 21801156 2011 Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 9699728 1998 CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.

PMID 23190892 2013 Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

PMID 9516223 1998 CDKN2A mutations in multiple primary melanomas.

PMID 11556834 2001 CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 17218939 2007 CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

PMID 15146471 2004 Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

PMID 26225579 2015 Novel CDKN2A mutations in Austrian melanoma patients.

PMID 16169933 2006 MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.

PMID 18983535 2008 CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

PMID 7987388 1994 Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus.

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 22841127 2012 Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

PMID 12700603 2003 A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

PMID 20653773 2010 Novel CDKN2A mutation detected in Spanish melanoma pedigree.

PMID 19571771 2009 Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.

PMID 25780468 2014 Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

PMID 21893440 2011 Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

PMID 9425228 1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

PMID 19799798 2009 Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

PMID 20093296 2010 Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

PMID 9916806 1999 Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.

PMID 10627132 1998 Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

PMID 12853981 2003 CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

PMID 14508519 2003 Germline splicing mutations of CDKN2A predispose to melanoma.

PMID 8710906 1996 Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

rs3731211 in CDKN2A gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3731211 in CDKN2A gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs104894094 in CDKN2A gene and Movement Disorders PMID 16234564 2005 Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

PMID 21325014 2011 Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

PMID 18981015 2008 Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

PMID 20132244 2010 Novel and recurrent p14 mutations in Italian familial melanoma.

PMID 15937071 2006 Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma.

PMID 10956390 2000 Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).

rs2811710 in CDKN2A gene and Multiple Myeloma PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

rs3731239 in CDKN2A gene and Nasopharyngeal Neoplasms PMID 26545403 2016 A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry.

rs1057519852 in CDKN2A gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104894095 in CDKN2A gene and Neoplastic Syndromes, Hereditary PMID 9699728 1998 CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas.

PMID 17171691 2007 The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.

PMID 16905682 2007 Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

PMID 15304098 2004 A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred.

PMID 16307646 2005 CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families.

PMID 11595726 2001 Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding.

PMID 8595405 1995 Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.

PMID 10491434 1999 Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

PMID 20340136 2010 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A.

PMID 9328469 1997 Germline mutations of the CDKN2 gene in UK melanoma families.

PMID 8710906 1996 Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.

PMID 9389568 1997 CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein.

PMID 8570179 1995 Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds.

PMID 9516223 1998 CDKN2A mutations in multiple primary melanomas.

PMID 9425228 1998 Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.

PMID 7569991 1995 Genetic discrimination and health insurance: an urgent need for reform.

PMID 21801156 2011 Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

PMID 19799798 2009 Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

PMID 23190892 2013 Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions.

PMID 26225579 2015 Novel CDKN2A mutations in Austrian melanoma patients.

PMID 16234564 2005 Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.

PMID 17909018 2007 A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6.

PMID 10390011 1999 Mutation testing in melanoma families: INK4A, CDK4 and INK4D.

PMID 21462282 2011 Classifying variants of CDKN2A using computational and laboratory studies.

PMID 10398427 1999 CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.

PMID 15146471 2004 Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

PMID 11815963 2002 Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome.

PMID 11556834 2001 CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

PMID 15304099 2004 Longitudinal assessment of the nevus phenotype in a melanoma kindred.

PMID 8668202 1996 Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma.

PMID 7647780 1995 Mutations associated with familial melanoma impair p16INK4 function.

PMID 7987387 1994 Germline p16 mutations in familial melanoma.

PMID 11506491 2001 A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

PMID 10389768 1999 Functional reassessment of P16 variants using a transfection-based assay.

PMID 10874641 1999 CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

PMID 12700603 2003 A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.

PMID 19571771 2009 Germline mutations in CDKN2A are infrequent in female patients with melanoma and breast cancer.

PMID 9823374 1998 The p16INK4a/CDKN2A tumor suppressor and its relatives.

PMID 21893440 2011 Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

PMID 15860862 2005 Role of the CDKN2A locus in patients with multiple primary melanomas.

PMID 12072543 2002 Geographical variation in the penetrance of CDKN2A mutations for melanoma.

PMID 16214921 2005 Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

PMID 15235029 2004 Genetic susceptibility in familial melanoma from northeastern Italy.

PMID 17492760 2007 New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

PMID 11075991 2000 Multiple primary tumors as an indicator for p16INK4a germline mutations in pancreatic cancer patients?

PMID 24659262 2014 CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

PMID 17218939 2007 CDKN2A germline mutations in individuals with cutaneous malignant melanoma.

PMID 17992122 2007 The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy.

PMID 12001124 2002 Multiple primary melanoma revisited.

PMID 9751050 1998 Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a.

PMID 17255954 2007 Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma.

PMID 19690981 2010 Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.

PMID 8755727 1996 Tumor suppressor p16INK4A: structural characterization of wild-type and mutant proteins by NMR and circular dichroism.

PMID 9856841 1998 CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds.

PMID 15140233 2004 p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma.

PMID 18178632 2008 CDKN2A mutations and melanoma risk in the Icelandic population.

PMID 28592523 2017 Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

PMID 22841127 2012 Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

PMID 17276542 2007 From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients.

PMID 26681309 2016 Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

PMID 26775776 2016 Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

PMID 25780468 2014 Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

PMID 18337833 2008 Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree.

PMID 29263814 2016 Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.

PMID 20093296 2010 Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.

PMID 9916806 1999 Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.

PMID 26581427 2016 The CDKN2A/p16(INK) (4a) 5'UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.

PMID 10738302 2000 Mutation screening of the CDKN2A promoter in melanoma families.

PMID 19523171 2009 CDKN2A mutations in melanoma families from Uruguay.

PMID 16397522 2006 Population-based prevalence of CDKN2A mutations in Utah melanoma families.

PMID 18025365 2007 Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation.

PMID 16896043 2006 The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 11687599 2001 Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations.

PMID 8573142 1996 Analysis of p16INK4a and its interaction with CDK4.

PMID 15075790 2004 Estimating the relative risk of developing melanoma in INK4A carriers.

PMID 7566978 1995 p16 proteins from melanoma-prone families are deficient in binding to Cdk4.

PMID 20876876 2010 Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

PMID 28146043 2017 Characterization of melanoma susceptibility genes in high-risk patients from Central Italy.

PMID 21325014 2011 Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

PMID 19484507 2009 Protective effect of copy number polymorphism of glutathione S-transferase T1 gene on melanoma risk in presence of CDKN2A mutations, MC1R variants and host-related phenotypes.

PMID 19260062 2009 Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

PMID 24660985 2014 Genotype analysis in Hungarian patients with multiple primary melanoma.

PMID 26104880 2015 Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.

PMID 17047042 2006 High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

PMID 24737347 2014 BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

PMID 25356972 2015 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

PMID 14508519 2003 Germline splicing mutations of CDKN2A predispose to melanoma.

PMID 10627132 1998 Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

PMID 12853981 2003 CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

PMID 18951449 2008 Assessment of functional effects of unclassified genetic variants.

PMID 11008905 2000 Gene-covariate interaction between dysplastic nevi and the CDKN2A gene in American melanoma-prone families.

PMID 10498896 1999 Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

PMID 24294354 2013 The missing puzzle piece: splicing mutations.

PMID 25803691 2015 Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

PMID 15945100 2005 The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired.

PMID 10070944 1999 CDKN2A variants in a population-based sample of Queensland families with melanoma.

PMID 9416844 1997 Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds.

PMID 9132280 1997 The CDKN2A (p16) gene and human cancer.

PMID 18803811 2008 Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

PMID 16169933 2006 MELPREDICT: a logistic regression model to estimate CDKN2A carrier probability.

PMID 25064638 2014 Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

PMID 21614589 2011 Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.

PMID 22636603 2012 Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas.

PMID 18981015 2008 Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families.

PMID 25227142 2015 Prospective risk of cancer and the influence of tobacco use in carriers of the p16-Leiden germline variant.

PMID 10956390 2000 Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden).

PMID 18813118 2008 Undifferentiated carcinoma with osteoclastic giant cells (UCOCGC) of the pancreas associated with the familial atypical multiple mole melanoma syndrome (FAMMM).

PMID 7640518 1995 CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

PMID 23897584 2013 Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation.

PMID 12549483 2003 Hereditary p16-Leiden mutation in a patient with multiple head and neck tumors.

PMID 7670475 1995 Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.

PMID 23613284 2013 Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome.

PMID 7919362 1994 Homozygous loss of the cyclin-dependent kinase 4-inhibitor (p16) gene in human leukemias.

PMID 17167857 2006 High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.

PMID 11433531 2001 CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred.

PMID 26876133 2016 CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature.

PMID 12920094 2003 Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred.

PMID 25813228 2015 Germline mutations predisposing to non-small cell lung cancer.

PMID 20526219 2010 Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype.

PMID 8653684 1996 Novel germline p16 mutation in familial malignant melanoma in southern Sweden.

PMID 27287845 2016 Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases.

PMID 24935963 2014 High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

PMID 11319798 2001 Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families.

PMID 10922411 2000 High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.

PMID 11156381 2000 CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.

PMID 10861313 2000 Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.

PMID 21150883 2011 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

PMID 12454511 2002 CDKN2A germline mutations in familial pancreatic cancer.

PMID 18983535 2008 CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

PMID 15150307 2004 Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families.

PMID 11518711 2001 Mutations in the INK4a/ARF melanoma susceptibility locus functionally impair p14ARF.

PMID 19759551 2010 Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations.

PMID 8723678 1996 CDKN2A (p16INK4A) somatic and germline mutations.

rs1057519883 in CDKN2A gene and Papillary renal cell carcinoma, sporadic PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs3731211 in CDKN2A gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3731217 in CDKN2A gene and Precursor B-Cell Lymphoblastic Leukemia-Lymphoma PMID 23996088 2013 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

rs3731211 in CDKN2A gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3731211 in CDKN2A gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3731199 in CDKN2A gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3731215 in CDKN2A gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs3731215 in CDKN2A gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs104894104 in CDKN2A gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894104 in CDKN2A gene and Squamous cell carcinoma of skin PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894104 in CDKN2A 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.

rs1057519881 in CDKN2A gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs7036656 in CDKN2A gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121913386 in CDKN2A gene and melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 21609436 2011 Combination therapy with vemurafenib (PLX4032/RG7204) and metformin in melanoma cell lines with distinct driver mutations.