一名疑似林奇综合征患者的新型 MLH1 无义变体

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-09-17 DOI:10.1038/s41439-024-00294-9

Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

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引用次数: 0

摘要

MLH1功能缺失种系变异可导致林奇综合征。在此，我们介绍一例被诊断为盲肠和横结肠腺癌的 43 岁男性患者。该病例的特征符合修订后的贝塞斯达指南，肿瘤显示出高频率的微卫星不稳定性。错配修复基因（林奇综合征的标志性基因）基因检测显示，MLH1 中存在一个新型杂合子种系致病变体 NM_000249.4:c.856A>T/NP_000240.1:p.(Lys286Ter)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

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Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. The characteristics of the case met the revised Bethesda guidelines, and the tumors demonstrated a high frequency of microsatellite instability. Genetic testing for mismatch repair genes (indicative of Lynch syndrome) revealed a novel heterozygous germline pathogenic variant, NM_000249.4:c.856A>T/NP_000240.1:p.(Lys286Ter), in MLH1.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks