Germline mutations in a DNA repair pathway are associated with familial colorectal cancer

Aiming to identify rare high-penetrance mutations in new genes for the underlying predisposition in familial colorectal cancer (CRC), we performed whole-exome sequencing in 24 familial CRCs. Mutations in genes that regulate DNA repair (RMI1, PALB2, FANCI) were identified that were related to the Fan...

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Detalles Bibliográficos
Autores principales: Xu, Pingping, Sun, Danfeng, Gao, Yaqi, Jiang, Yi, Zhong, Ming, Zhao, Gang, Chen, Jinxian, Wang, Zheng, Liu, Qiang, Hong, Jie, Chen, Haoyan, Chen, Ying-Xuan, Fang, Jing-Yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8492347/
https://www.ncbi.nlm.nih.gov/pubmed/34549727
http://dx.doi.org/10.1172/jci.insight.148931

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8492347/
https://www.ncbi.nlm.nih.gov/pubmed/34549727
http://dx.doi.org/10.1172/jci.insight.148931

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