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...
Main Authors: | , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
American Society for Clinical investigation
2021-09-01
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Series: | JCI Insight |
Subjects: | |
Online Access: | https://doi.org/10.1172/jci.insight.148931 |