Author: Yang Xiaohong Liang Xueying Pfeiffer Ruth Wheeler William Maeder Dennis Burdette Laurie Yeager Meredith Chanock Stephen Tucker Margaret Goldstein Alisa
Publisher: Springer Publishing Company
ISSN: 1389-9600
Source: Familial Cancer, Vol.9, Iss.4, 2010-12, pp. : 625-633
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Abstract
Chromosome 9p21 has been implicated in the pathogenesis of cutaneous malignant melanoma (CMM). In addition to CDKN2A, the major known high-risk susceptibility gene for CMM, recent studies suggest that other 9p21 genes may be involved in melanoma/nevi development. To identify 9p21 variants that influence susceptibility to CMM and number of nevi in CMM-prone families with and without CDKN2A mutations, we analyzed 562 individuals (183 CMM) from 53 families (23 CDKN2A+, 30 CDKN2A−) for 233 tagging SNPs in 21 genes at 9p21. Single SNP- and gene-based regression analyses were used to assess the risk of CMM, nevi count, skin complexion, and tanning ability associated with these SNPs and genes. We found that SNP rs7023329 in the MTAP gene was associated with number of nevi (
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