Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

被引：0

作者：

Takaiso, Nobue ^{[1
]}

Imoto, Issei ^{[1
,2
]}

Matsumoto, Toshihiko ^{[3
]}

Yoshimura, Akiyo ^{[1
,4
]}

机构：

[1] Aichi Canc Ctr Hosp, Risk Assessment Unit, Nagoya, Japan

[2] Aichi Canc Ctr Res Inst, Nagoya, Japan

[3] Ichinomiyanishi Hosp, Dept Med Oncol, Ichinomiya, Japan

[4] Aichi Canc Ctr Hosp, Dept Breast Oncol, Nagoya, Japan

来源：

HUMAN GENOME VARIATION | 2024年 / 11卷 / 01期

关键词：

GUIDELINES;

D O I：

10.1038/s41439-024-00294-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：3

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