Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.

doi:10.1053/j.gastro.2020.03.015

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Article

Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.

Gastroenterology - 1 Jul 2020

Bonjoch Laia, Franch-Expósito Sebastià, Garre Pilar, Belhadj Sami, Muñoz Jenifer, Arnau-Collell Coral, Díaz-Gay Marcos, Gratacós-Mulleras Anna, Raimondi Giulia, Esteban-Jurado Clara, Soares de Lima Yasmin, Herrera-Pariente Cristina, Cuatrecasas Miriam, Ocaña Teresa, Castells Antoni, Fillat Cristina, Capellá Gabriel, Balaguer Francesc, Caldés Trinidad, Valle Laura, Castellví-Bel Sergi

Abstract excerpt

BACKGROUND & AIMS: 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. METHODS: We performed whole-exome sequencing analyses of 75 patients from 40 families with a history of CRC (including early-onset...

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PMID: 32179092
DOI: 10.1053/j.gastro.2020.03.015

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