Article
Germline splicing mutations of CDKN2A predispose to melanoma.
Oncogene - 25 Sept 2003
Loo Joanne C Y, Liu Ling, Hao AiHua, Gao LuZhuang, Agatep Ron, Shennan Michael, Summers Anne, Goldstein Alisa M, Tucker Margaret A, Deters Carolyn, Fusaro Ramon, Blazer Kathleen, Weitzel Jeffrey, Lassam Norman, Lynch Henry, Hogg David
Abstract excerpt
Coding mutations of the CDKN2A gene on chromosome 9p21 cosegregate with 25-60% of familial melanoma cases, but there remains a number of 9p21-linked kindreds that lack germline coding mutations of CDKN2A. We sequenced CDKN2A exons 1alpha, 2, 3, and the adjacent intronic regions in 167 melanoma-prone families (at least two affected first-degree relatives), and detected four splice site variations, three of which...
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