Germline splicing mutations of CDKN2A predispose to melanoma

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 1 α , 2, 3, and the adjacent intronic regions in 167 melanoma-prone...

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Veröffentlicht in:	Oncogene 2003-09, Vol.22 (41), p.6387-6394
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Apoptosis Biological and medical sciences CDKN2A gene Cell Biology Cell physiology Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes Chromosome 9 Cyclin-Dependent Kinase Inhibitor p16 - genetics Cyclin-Dependent Kinase Inhibitor p16 - metabolism Dermatology Epidemiology Exons Female Founder effect Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease Genetics Human Genetics Humans Internal Medicine Introns Male Medical sciences Medicine Medicine & Public Health Melanoma Melanoma - genetics Melanoma - metabolism Molecular and cellular biology mRNA Mutation Oncology original-paper Pedigree Polymorphism Reverse Transcriptase Polymerase Chain Reaction RNA Splice Sites Skin cancer Splicing Tumors of the skin and soft tissue. Premalignant lesions Two-Hybrid System Techniques
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