Literature DB >> 11506491

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

A M Goldstein1, L Liu, M G Shennan, D Hogg, M A Tucker, J P Struewing.   

Abstract

One of the most common melanoma-related CDKN2A mutations reported in North America is the V126D mutation. We examined nine markers surrounding CDKN2A in three American and four Canadian families carrying the V126D mutation. All seven families had a haplotype consistent with a common ancestor/founder for this mutation. In addition, the mutation appears to have originated 34-52 generations ago (1-LOD-unit support interval 13-98 generations). Copyright 2001 Cancer Research Campaign.

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Year:  2001        PMID： 11506491      PMCID： PMC2364106          DOI： 10.1054/bjoc.2001.1944

Source DB:  PubMed          Journal:  Br J Cancer        ISSN： 0007-0920            Impact factor:   7.640


  23 in total

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

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10.  Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds.

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Journal:  Nat Genet       Date:  1995-07       Impact factor: 38.330
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  3 in total

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2.  CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.

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3.  CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.

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