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

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 LS pedig...

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Detalles Bibliográficos
Autores principales: Li, Fan, Xia, Yunwei, Wang, Guoguang, Tang, Chaoyang, Zhan, Tian, Shen, Jian, Zhang, Jianping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434735/
https://www.ncbi.nlm.nih.gov/pubmed/32490589
http://dx.doi.org/10.1002/mgg3.1295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434735/
https://www.ncbi.nlm.nih.gov/pubmed/32490589
http://dx.doi.org/10.1002/mgg3.1295

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