英國(guó)和美國(guó)兩個(gè)科研小組分別在新一期《自然遺傳學(xué)》雜志上宣布，他們發(fā)現(xiàn)了導(dǎo)致睪丸癌的基因變異,。這是醫(yī)學(xué)界第一次找到睪丸癌的遺傳致病因素,。

英國(guó)癌癥研究所科研小組報(bào)告說(shuō),，他們比較了730名睪丸癌患者和健康男性的基因組信息,，發(fā)現(xiàn)分別位于5號(hào),、6號(hào)和12號(hào)染色體內(nèi)的3個(gè)基因，無(wú)論哪一個(gè)發(fā)生變異,，人患睪丸癌的風(fēng)險(xiǎn)都會(huì)顯著增加,。如果3個(gè)基因均變異，那么患睪丸癌的風(fēng)險(xiǎn)會(huì)高達(dá)健康男性的4倍,。

美國(guó)賓夕法尼亞大學(xué)醫(yī)學(xué)院科研小組發(fā)現(xiàn)的是其中的兩個(gè)基因變異,。兩個(gè)研究小組在《自然遺傳學(xué)》上介紹說(shuō)，他們將繼續(xù)進(jìn)行“基因搜查”,，尋找與睪丸癌有關(guān)的更多的基因變異。

睪丸癌是中青年男性最常見(jiàn)的癌癥之一,，大多數(shù)都可以治愈,。英美科學(xué)家的研究成果將有助于開(kāi)發(fā)針對(duì)睪丸癌的更好的治療方法。此外,，借助基因診斷,，醫(yī)學(xué)研究人員將來(lái)有望早期篩查出睪丸癌患病風(fēng)險(xiǎn)高的人，大大提高早期診斷和預(yù)防的效率,。（生物谷Bioon.com）

生物谷推薦原始出處：

Nature Genetics 31 May 2009 | doi:10.1038/ng.394

A genome-wide association study of testicular germ cell tumor

Elizabeth A Rapley1, Clare Turnbull1, Ali Amin Al Olama2, Emmanouil T Dermitzakis3, Rachel Linger1, Robert A Huddart4, Anthony Renwick1, Deborah Hughes1, Sarah Hines1, Sheila Seal1, Jonathan Morrison2, Jeremie Nsengimana5, Panagiotis Deloukas3, The UK Testicular Cancer Collaboration6, Nazneen Rahman1, D Timothy Bishop5, Douglas F Easton2 & Michael R Stratton1,3

We conducted a genome-wide association study for testicular germ cell tumor (TGCT), genotyping 307,666 SNPs in 730 cases and 1,435 controls from the UK and replicating associations in a further 571 cases and 1,806 controls. We found strong evidence for susceptibility loci on chromosome 5 (per allele OR = 1.37 (95% CI = 1.19–1.58), P = 3  10-13), chromosome 6 (OR = 1.50 (95% CI = 1.28–1.75), P = 10-13) and chromosome 12 (OR = 2.55 (95% CI = 2.05–3.19), P = 10-31). KITLG, encoding the ligand for the receptor tyrosine kinase KIT, which has previously been implicated in the pathogenesis of TGCT and the biology of germ cells, may explain the association on chromosome 12.

1 Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
2 Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, UK.
3 The Wellcome Trust Sanger Institute, Hinxton, UK.
4 Academic Radiotherapy Unit, Institute of Cancer Research, Sutton, Surrey, UK.
5 Section of Epidemiology & Biostatistics, Leeds Institute of Molecular Medicine, Leeds, UK.
6 A full list of members is listed in the Supplementary Note online.

Nature Genetics 31 May 2009 | doi:10.1038/ng.393

Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer

Peter A Kanetsky1,2, Nandita Mitra1,2, Saran Vardhanabhuti1, Mingyao Li1, David J Vaughn2,3, Richard Letrero2,4, Stephanie L Ciosek2,4, David R Doody5, Lauren M Smith4, JoEllen Weaver6, Anthony Albano7, Chu Chen5,8, Jacqueline R Starr5,8,9, Daniel J Rader10,11, Andrew K Godwin6, Muredach P Reilly10,11, Hakon Hakonarson7, Stephen M Schwartz5,8 & Katherine L Nathanson2,4

Testicular germ cell tumors (TGCT) have been expected to have a strong underlying genetic component. We conducted a genome-wide scan among 277 TGCT cases and 919 controls and found that seven markers at 12p22 within KITLG (c-KIT ligand) reached genome-wide significance (P < 5.0  10-8 in discovery). In independent replication, TGCT risk was increased threefold per copy of the major allele at rs3782179 and rs4474514 (OR = 3.08, 95% CI = 2.29–4.13; OR = 3.07, 95% CI = 2.29–4.13, respectively). We found associations with rs4324715 and rs6897876 at 5q31.3 near SPRY4 (sprouty 4; P < 5.0 10-6 in discovery). In independent replication, risk of TGCT was increased nearly 40% per copy of the major allele (OR = 1.37, 95% CI = 1.14–1.64; OR = 1.39, 95% CI = 1.16–1.66, respectively). All of the genotypes were associated with both seminoma and nonseminoma TGCT subtypes. These results demonstrate that common genetic variants affect TGCT risk and implicate KITLG and SPRY4 as genes involved in TGCT susceptibility.

1 Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
2 Abramson Cancer Center, Divisions of Hematology-Oncology and Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
3 Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
4 Division of Medical Genetics, Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
5 Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
6 Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA.
7 Center for Applied Genomics and Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
8 Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington, USA.
9 Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA.
10 Cardiovascular Institute, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
11 Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.