Low-Penetrance Genotypes, Pigmentation Phenotypes, and Melanoma Etiology
作者： Peter A. Kanetsky , Timothy R. Rebbeck
DOI: 10.1007/978-1-59259-994-3_19
关键词:
摘要: The etiology of melanoma involves the interplay numerous factors, including sun exposure and genetic predisposition. This chapter highlights current state knowledge about impact genomic sequence variation in genes involved cutaneous pigmentation. A brief background pigmentation pathway is presented context candidate susceptibility molecular epidemiological studies. Candidate include melanocortin-1 receptor (MC1R), agouti-signaling protein (ASIP), P gene. For each gene, known associations with phenotypes are presented. Other considered tyrosinase (TYR), tyrosinase-related 1 (TYRP1), dopachrome tautomerase (DCT; or, alternatively, 2 [TYRP2]).
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