Nat Genetics：与肝吸虫有关胆管癌的外显子测序结果公布
2012-05-19 张笑 中国科学报
近日，国际著名杂志《自然—遗传学》Nature Genetics在线刊登了国外研究人员的最新研究成果“Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes，”，文章中，他们对一种与肝吸虫有关的致
近日，国际著名杂志《自然—遗传学》Nature Genetics在线刊登了国外研究人员的最新研究成果“Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes，”，文章中，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。
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。
doi:10.1038/ng.2246
PMC:
PMID:
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
Zhi Jiang Zang, Ioana Cutcutache, Song Ling Poon, Shen Li Zhang, John R McPherson, Jiong Tao, Vikneswari Rajasegaran, Hong Lee Heng, Niantao Deng, Anna Gan, Kiat Hon Lim, Choon Kiat Ong, DaChuan Huang, Sze Yung Chin, Iain Beehuat Tan, Cedric Chuan Young Ng, Willie Yu, Yingting Wu, Minghui Lee, Jeanie Wu, Dianne Poh, Wei Keat Wan, Sun Young Rha, Jimmy So, Manuel Salto-Tellez et al.
Gastric cancer is a major cause of global cancer mortality. We surveyed the spectrum of somatic alterations in gastric cancer by sequencing the exomes of 15 gastric adenocarcinomas and their matched normal DNAs. Frequently mutated genes in the adenocarcinomas included TP53 (11/15 tumors), PIK3CA (3/15) and ARID1A (3/15). Cell adhesion was the most enriched biological pathway among the frequently mutated genes. A prevalence screening confirmed mutations in FAT4, a cadherin family gene, in 5% of gastric cancers (6/110) and FAT4 genomic deletions in 4% (3/83) of gastric tumors. Frequent mutations in chromatin remodeling genes (ARID1A, MLL3 and MLL) also occurred in 47% of the gastric cancers. We detected ARID1A mutations in 8% of tumors (9/110), which were associated with concurrent PIK3CA mutations and microsatellite instability. In functional assays, we observed both FAT4 and ARID1A to exert tumor-suppressor activity. Somatic inactivation of FAT4 and ARID1A may thus be key tumorigenic events in a subset of gastric cancers.
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