Variant: rs104894094 

    present in Gene: CDKN2A
    present in Chromosome: 9
    Position on Chromosome: 21971058
    Alleles of this Variant: C/A;G;T

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.

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.

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).