Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees

Abstract Background Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. Methods We performed next‐generation sequencing on blood cells obtained from the members of three unrelated L...

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Detalles Bibliográficos

Principais autores:	Fan Li, Yunwei Xia, Guoguang Wang, Chaoyang Tang, Tian Zhan, Jian Shen, Jianping Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2020-08-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	Lynch syndrome mutL protein homolog 1 next‐generation sequencing
Acceso en liña:	https://doi.org/10.1002/mgg3.1295
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