Germline MC1R Variants and BRAF Mutant Melanoma
نویسندگان
چکیده
منابع مشابه
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
BACKGROUND CDKN2A and CDK4 are high risk susceptibility genes for cutaneous malignant melanoma. Melanoma families with CDKN2A germline mutations have been extensively characterised, whereas CDK4 families are rare and lack a systematic investigation of their phenotype. METHODS All known families with CDK4 germline mutations (n=17) were recruited for the study by contacting the authors of publi...
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متن کاملAssociation of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations.
Major risk factors for melanoma include many nevi, especially dysplastic nevi, fair pigmentation, freckling, poor tanning ability, and germ line mutations in the CDKN2A, CDK4, or MC1R genes. We evaluated the relationship between MC1R and melanoma risk in CDKN2A melanoma-prone families with extensive clinical and epidemiologic data. We studied 395 subjects from 16 American CDKN2A families. Major...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2008
ISSN: 0022-202X
DOI: 10.1038/jid.2008.236