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您现在的位置: YiCeb—专业科研临床服务中心 > 资讯动态 >行业资讯 > Nat Genet :科学家发现五种睾丸癌基因
Nat Genet :科学家发现五种睾丸癌基因

关键词: 睾丸癌 基因

德国汉诺威医学院5月21日宣布,研究人员发现了促使睾丸肿瘤形成的5种基因突变。这一发现将有助于今后睾丸癌的防治。

睾丸癌多出现在某一特定家族。这意味着,遗传因素对肿瘤产生起到促进作用。经调查,德国汉诺威医学院等机构的研究人员发现了总计5种有助于肿瘤形成的基因突变,并将研究报告发表在英国《自然—遗传学》和《人类分子遗传学》杂志上。

“这一突破由众多科学家通过紧密国际合作得来,也更好地帮助我们了解导致肿瘤形成的生物过程,”汉诺威医学院教授克里斯蒂安·克拉茨说,“这些基因突变的发现或有助于将来睾丸癌的预防和治疗。”

推荐英文摘要:

Nature Genetics    doi:10.1038/ng.2634

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

Charles C Chung,1, 2, 19 Peter A Kanetsky,3, 4, 19 Zhaoming Wang,1, 2, 19 Michelle A T Hildebrandt,5, 19 Roelof Koster,6, 19 Rolf I Skotheim,7, 8, 19 Christian P Kratz,1, 18, 19 Clare Turnbull,9, 19 Victoria K Cortessis,10, 19 Anne C Bakken,7, 8 D Timothy Bishop,11 Michael B Cook,1 R Loren Erickson,12 Sophie D Foss?,13 Kevin B Jacobs,1, 2 Larissa A Korde,1, 14 Sigrid M Kraggerud,7, 8 Ragnhild A Lothe,7, 8 Jennifer T Loud,1 Nazneen Rahman,9 Eila C Skinner,15 Duncan C Thomas,10 Xifeng Wu,5 M

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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