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Nature Commun: 对冰岛人群林奇综合征的群体分析揭示了MSH6和PMS2基因上的始祖突变

2017-05-18 cailingrui MedSci原创

林奇综合征(Lynch syndrome)是由错配修复基因的生殖系突变导致,与癌症风险的增加相关。本研究采用了大规模全基因组测序数据库,癌症患者资料库和结直肠癌数据库,明确了冰岛人群中林奇综合征的发现与癌症风险和一系列突变的致病性相关。

林奇综合征(Lynch syndrome)是由错配修复基因的生殖系突变导致,与癌症风险的增加相关。

本研究采用了大规模全基因组测序数据库,癌症患者资料库和结直肠癌数据库,明确了冰岛人群中林奇综合征的发现与癌症风险和一系列突变的致病性相关。

研究中采用了2000-2009年确诊的1,182个结直肠癌病人样本。 其中132个肿瘤样本(11.2%)有免疫组化的错配修复缺陷,21个(1.8%)患有林奇综合征,106个(9.0%)发生了体细胞超甲基化或错配修复基因上的突变。 正常人群中林奇综合征的发病率为0.442%。

研究揭示了MLH1基因上的异位和MSH6PMS2基因上的三个突变会增加子宫内膜癌,结直肠癌,脑癌及卵巢癌的风险,发现了13个临床意义未明的错配修复突变与癌症风险并不相关。

研究证明,冰岛人群中普遍存在的MSH6PMS2基因上的始祖突变不同于其他人群。


原始出处:

S Haraldsdottir et al. Comprehensive Population-Wide Analysis of Lynch Syndrome in Iceland Reveals Founder Mutations in MSH6 and PMS2. Nature communications 8 (2017): 14755

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    2017-06-01 liuli5079
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    2017-10-21 liye789132251
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    2017-05-27 仁医06
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