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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Bibliographic Details
Main Authors: Pingping Xu, Danfeng Sun, Yaqi Gao, Yi Jiang, Ming Zhong, Gang Zhao, Jinxian Chen, Zheng Wang, Qiang Liu, Jie Hong, Haoyan Chen, Ying-Xuan Chen, Jing-Yuan Fang
Format: Article
Language:English
Published: American Society for Clinical investigation 2021-09-01
Series:JCI Insight
Subjects:
Online Access:https://doi.org/10.1172/jci.insight.148931