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RESULTS We identified predicted pathogenic variant in the FAF1 gene (c.1111GA; p.Asp371Asn) in the discovery cohort; it was present in 4 patients of the same family. We identified a second variant in FAF1 in the validation cohort (c.254GC; p.Arg85Pro). Both variants encoded unstable FAF1 proteins. Expression of these variants in CRC cells caused them to become resistant to apoptosis, accumulate b-catenin in the cytoplasm, and translocate NF-kB to the nucleus. CONCLUSIONS In whole-exome sequencing analyses of patients from famili
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