与Lynch综合征相关的MSH6种系致病变异p.Gly162Ter。

IF 1 Q4 GENETICS & HEREDITY Human Genome Variation Pub Date : 2022-10-26 DOI:10.1038/s41439-022-00216-7

Olga A Vostrukhina, Elena D Mirlina, Darya N Khmelkova, Galina M Butrovich, Alexandra D Shakhmatova, Yury V Kil, Yliya L Polyatskin, Anna S Artemyeva, Alexey V Gulyaev, Valery N Verbenko

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引用次数: 1

摘要

我们鉴定了一个三代俄罗斯Lynch综合征家族，该家族具有MSH6基因的一种新的种系变异。一位84岁的女性在49岁时被诊断为子宫内膜腺癌。她的儿子在32岁时被诊断出患有结肠管状腺瘤。全外显子组测序结果显示，MSH6基因外显子3存在一种系无义变异(c.484 G > T:p.Gly162Ter)。Sanger测序证实了家族成员中MSH6无义变异的共分离。

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An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.

We identified a three-generation Russian family with Lynch syndrome with a novel germline variant of the MSH6 gene. An 84-year-old female was diagnosed with endometrial adenocarcinoma at the age of 49 years. Her son was diagnosed with colorectal tubular adenoma at the age of 32 years. A germline nonsense variant (c.484 G > T:p.Gly162Ter) in exon 3 of the MSH6 gene was revealed by whole-exome sequencing. Sanger sequencing confirmed the cosegregation of the MSH6 nonsense variant in family members.

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