作者
Elise Ruark, Sheila Seal, Heather McDonald, Feng Zhang, Anna Elliot, KingWai Lau, Elizabeth Perdeaux, Elizabeth Rapley, Rosalind Eeles, Julian Peto, Zsofia Kote-Jarai, Kenneth Muir, Jeremie Nsengimana, Janet Shipley, UK Testicular Cancer Collaboration (UKTCC), D Timothy Bishop, Michael R Stratton, Douglas F Easton, Robert A Huddart, Nazneen Rahman, Clare Turnbull
发表日期
2013/6
期刊
Nature genetics
卷号
45
期号
6
页码范围
686-689
出版商
Nature Publishing Group US
简介
Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks,. So far, six loci associated with TGCT have been reported,,,,. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) showing association with TGCT (P < 5 × 10−8), which together account for an additional 4–6% of the familial risk of TGCT. The loci include genes plausibly related to TGCT development. PRDM14, at 8q13.3, is essential for early germ cell specification, and DAZL, at 3p24.3, is required for the regulation of germ cell development. Furthermore, PITX1, at 5q31.1, regulates TERT expression and is the …
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