Condition: Hereditary Melanoma


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.

rs1563902931 in CDKN2A;CDKN2B-AS1 gene and Hereditary Melanoma PMID 11571653 2001 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

PMID 15856016 2005 A mutation hotspot at the p14ARF splice site.

PMID 17440112 2007 Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

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

PMID 25294512 2014 [CDKN2A-mutation in a family with hereditary malignant melanoma].

rs1287464120 in CDKN2B-AS1;CDKN2A gene and Hereditary Melanoma PMID 11571653 2001 A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

PMID 17440112 2007 Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF.

PMID 15856016 2005 A mutation hotspot at the p14ARF splice site.