关键词：睾丸癌,遗传,变异

6月《自然—遗传学》上的两篇文章报告了与睾丸癌有关的12种新的危险遗传变异的发现。

睾丸生殖细胞肿瘤是年轻人中最常见的一种癌症，发病峰值处于25到34岁之间。

Katherine Nathanson等人对睾丸生殖细胞肿瘤的6项全基因组关联研究进行了元分析，以及后续六个额外样品的副本检测。他们发现了4个新的染色体区域与该疾病的风险增加有关。在另外一项实验中，Clare Turnbull等人则对一项全基因关联研究和一项大型副本研究的数据进行了元分析，并发现了睾丸癌的9个新易感变异，其中一个与Nathanson等人获得的结果重叠。而且，，医生在线答疑，此12个遗传变异中有一部分变异会驻留在对男性生殖细胞发育有重要作用的基因附近。（生物谷Bioon.com）

Nature Genetics, doi:10.1038/ng.2634

Meta-analysis identifies four new loci associated with testicular germ cell tumor

Charles C Chung,Peter A Kanetsky,Zhaoming Wang,Michelle A T Hildebrandt,Roelof Koster,Rolf I Skotheim,Christian P Kratz,Clare Turnbull,Victoria K Cortessis,Anne C Bakken,D Timothy Bishop,Michael B Cook,R Loren Erickson,Sophie D Foss,Kevin B Jacobs,Larissa A Korde,Sigrid M Kraggerud,Ragnhild A Lothe,Jennifer T Loud,Nazneen Rahman,Eila C Skinner,Duncan C Thomas,Xifeng Wu,Meredith Yeager,Fredrick R Schumacher et al.

We conducted a meta-analysis to identify new susceptibility loci for testicular germ cell tumor (TGCT). In the discovery phase, we analyzed 931 affected individuals and 1,975 controls from 3 genome-wide association studies (GWAS). We conducted replication in 6 independent sample sets comprising 3,211 affected individuals and 7,591 controls. In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12–1.26; P = 1.11 × 10?8), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14–1.29; P = 5.59 × 10?9), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18–1.34; P = 5.15 × 10?12) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18–1.33; P = 4.32 × 10?13 and rs7221274: OR = 1.20, 95% CI = 1.12–1.28; P = 4.04 × 10?9), a locus that includes TEX14, RAD51C and PPM1E. These new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and the DNA damage response.

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