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GERMLINE MUTATIONS IN FAF1 ARE ASSOCIATED WITH HEREDITARY COLORECTAL CANCER
2020
Gastroenterology
A significant proportion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genetic factors that contribute to these cases. We performed an exhaustive functional characterization of genetic variants associated with familial CRC. We performed whole-exome sequencing analyses of 75 patients from 40 families with a history of CRC (including early-onset cases) of an unknown germline basis (discovery cohort). We also sequenced specific genes in DNA from an
doi:10.1053/j.gastro.2020.03.015
pmid:32179092
fatcat:sd2tg3zgtfconltr2lnfov24bq