Nat. Genet： 与肝吸虫有关的胆管癌外显子测序结果公布

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<div>近日，新加坡和泰国的科学家在本周出版的《自然—遗传学》（<em>Nature Genetics</em> ）上撰文称，他们对一种与肝吸虫有关的致命胆管癌进行了全基因组外显子测序。胆管癌在全球的原发性肝癌中占10%到25%的比例，高发于东南亚地区，其与麝猫后睾吸虫感染有关。</div>
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Bin Tean Teh等人从由麝猫后睾吸虫感染所致的胆管癌患者中提取8个肿瘤样本以及对应的正常组织样本，然后进行全基因组外显子测序分析。

他们对46个附加病例中的15个基因进行筛查，以检查突变发生率。研究人员鉴定出几种相关已知基因产生的体细胞突变，同时，还有与胆管癌突变有关的10种新基因。这意味着胆管癌发展过程中的突变可能会对基因组稳定性、G蛋白信号通路和组织蛋白修饰三方面产生影响。 
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<img src="http://www.bioon.com/biology/UploadFiles/201205/2012052818301730.gif" alt="" width="113" height="149" border="0" hspace="0" />

<a title="" href="http://dx.doi.org/10.1038/ng.2273" target="_blank">doi:10.1038/ng.2273</a>
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<br/><strong>Exome sequencing of liver fluke–associated cholangiocarcinoma</strong><br/>


Choon Kiat Ong,1, 2, 14 Chutima Subimerb,1, 2, 3, 14 Chawalit Pairojkul,3 Sopit Wongkham,3 Ioana Cutcutache,4 Willie Yu,1, 2, 5 John R McPherson,4 George E Allen,1, 2 Cedric Chuan Young Ng,1, 2 Bernice Huimin Wong,1, 2 Swe Swe Myint,1, 2 Vikneswari Rajasegaran,1, 2 Hong Lee Heng,1, 2 Anna Gan,1, 2 Zhi Jiang Zang,2, 6 Yingting Wu,4, 7 Jeanie Wu,2 Ming Hui Lee,2 DaChuan Huang,1, 2 Pauline Ong,1, 2 Waraporn Chan-on,1, 2, 3 Yun Cao,8 Chao-Nan Qian,8 Kiat Hon Lim,9 Aikseng Ooi,10

Opisthorchis viverrini–related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini–related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes using Sanger sequencing and selected 15 genes for mutation prevalence screening in an additional 46 individuals with CCA (cases). In addition to the known cancer-related genes TP53 (mutated in 44.4% of cases), KRAS (16.7%) and SMAD4 (16.7%), we identified somatic mutations in 10 newly implicated genes in 14.8–3.7% of cases. These included inactivating mutations in MLL3 (in 14.8% of cases), ROBO2 (9.3%), RNF43 (9.3%) and PEG3 (5.6%), and activating mutations in the GNAS oncogene (9.3%). These genes have functions that can be broadly grouped into three biological classes: (i) deactivation of histone modifiers, (ii) activation of G protein signaling and (iii) loss of genome stability. This study provides insight into the mutational landscape contributing to O. viverrini–related CCA.
<div>  <br/>来源：Nature Genetics</div>
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