Melanoma Genetics: Recent Findings Take Us Beyond Well-Traveled Pathways
Melanoma Genetics: Recent Findings Take Us Beyond Well-Traveled Pathways
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DOI：
10.1038/jid.2012.75
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发表时间：
2012-07-01
影响因子：
6.5
通讯作者：
Hayward, Nicholas K.
中科院分区：
文献类型：
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作者：
Law, Matthew H.;MacGregor, Stuart;Hayward, Nicholas K.
遗传连锁和候选基因研究已经通过色素沉着和痣增殖的内表型确定了许多参与黑色素瘤易感性的基因，如MC 1 R和CDKN 2A。2008年和2009年的一系列全基因组关联研究（GWAS）表明，少数额外的基因（例如，ASIP、TYR和PLA 2G 6）影响这些内表型，也影响黑色素瘤风险。最近一波黑色素瘤GWAS已经发现了独立于已知黑色素瘤相关表型发挥作用的基因，突出了DNA修复和细胞周期控制等过程的作用。我们借此机会总结这些新的和令人兴奋的发现，并将它们整合到我们对黑色素瘤遗传学的理解的当前框架中。Journal of Investigative Dermatology（2012）132，1763-1774; doi：10.1038/jid.2012.75在线发表2012年4月5日
Genetic linkage and candidate gene studies have identified a number of genes involved in melanoma susceptibility, such as MC1R and CDKN2A, via the endophenotypes of pigmentation and nevus proliferation. A series of genome-wide association studies (GWASs) in 2008 and 2009 showed that a handful of additional genes (e.g., ASIP, TYR, and PLA2G6) influencing these endophenotypes also affected melanoma risk. The most recent wave of melanoma GWASs has uncovered genes functioning independently of the known melanomaassociated phenotypes, highlighting the role of processes such as DNA repair and cell cycle control. We take this opportunity to summarize these new and exciting findings and integrate them into the current framework of our understanding of melanoma genetics. Journal of Investigative Dermatology (2012) 132, 1763-1774; doi:10.1038/jid.2012.75 published online 5 April 2012