Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

doi:10.1053/j.gastro.2017.09.005

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Article

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.

Gastroenterology - 1 Jan 2018

Bellido Fernando, Sowada Nadine, Mur Pilar, Lázaro Conxi, Pons Tirso, Valdés-Mas Rafael, Pineda Marta, Aiza Gemma, Iglesias Silvia, Soto José Luís, Urioste Miguel, Caldés Trinidad, Balbín Milagros, Blay Pilar, Rueda Daniel, Durán Mercedes, Valencia Alfonso, Moreno Victor, Brunet Joan, Blanco Ignacio, Navarro Matilde, Calin George A, Borck Guntram, Puente Xose S, Capellá Gabriel, Valle Laura

Abstract excerpt

BACKGROUND & AIMS: Although there is a genetic predisposition to colorectal cancer (CRC), few of the genes that affect risk have been identified. We performed whole-exome sequence analysis of individuals in a high-risk family without mutations in genes previously associated with CRC risk to identify variants associated with inherited CRC. METHODS: We collected blood samples from 3 relatives with CRC in Spain (65,...

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Identifiers

PMID: 28912018
DOI: 10.1053/j.gastro.2017.09.005

Genes

BRF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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