Condition: MELANOMA-PANCREATIC CANCER SYNDROME


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.