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A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review

BackgroundLynch syndrome (LS) is an autosomal dominant inherited disorder caused by mutations in mismatch repair genes. Genetic counseling is crucial for the prevention and treatment of LS, as individuals with these mutations have an increased lifetime risk of developing multiple cancers. MutS Homol...

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Principais autores: Lan Zhong, Wenxiang Wang, Yuanqiong Duan, Liang Song, Zhanghuan Li, Kaixuan Yang, Qintong Li, Rutie Yin
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2024-10-01
coleção:Frontiers in Genetics
Assuntos:
Lynch syndrome
endometrial carcinoma
MSH2
nonsense mutation
case report
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2024.1440179/full
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