Premium
Single‐nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review
Author(s) -
Binstock M.,
Hafeez F.,
Metchnikoff C.,
Arron S.T.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.13283
Subject(s) - single nucleotide polymorphism , skin cancer , snp , basal cell carcinoma , haplotype , genetics , biology , dermatology , medicine , cancer , gene , allele , basal cell , genotype , pathology
Summary Nonmelanoma skin cancer ( NMSC ) is the most common cancer in the U.S.A. The two most common NMSC s are basal cell carcinoma and squamous cell carcinoma. The associations of single‐nucleotide polymorphisms ( SNP s) in pigmentation pathway genes with NMSC are not well characterized. There is a series of epidemiological studies that have tested these relationships, but there is no recent summary of these findings. To explain overarching trends, we undertook a systematic review of published studies. The summarized data support the concept that specific SNP s in the pigmentation pathway are of importance for the pathogenesis of NMSC . The SNP s with the most promising evidence include MC 1R rs1805007(T) (Arg151Cys) and rs1805008(T) (Arg160Trp), and ASIP AH haplotype [rs4911414(T) and rs1015362(G)]. There are a few other SNP s found in TYR , OCA 2 and SLC 45A2 that may show additional correlation after future research. With additional research there is potential for the translation of future findings to the clinic in the form of SNP screenings, where patients at high risk for NMSC can be identified beyond their phenotype by genotypically screening for predisposing SNP s.