Variant: rs104894095

present in Gene: CDKN2A present in Chromosome: 9 Position on Chromosome: 21971200 Alleles of this Variant: C/G;T

rs104894095 in CDKN2A gene and Hereditary Melanoma 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.

rs104894095 in CDKN2A gene and MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 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 11506491 2001 A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

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 12019208 2002 Germline mutation of ARF in a melanoma kindred.

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

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

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

PMID 7987387 1994 Germline p16 mutations in familial melanoma.

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

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

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

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.