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Article

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2015

Esteban-Jurado Clara, Vila-Casadesús Maria, Garre Pilar, Lozano Juan José, Pristoupilova Anna, Beltran Sergi, Muñoz Jenifer, Ocaña Teresa, Balaguer Francesc, López-Cerón Maria, Cuatrecasas Miriam, Franch-Expósito Sebastià, Piqué Josep M, Castells Antoni, Carracedo Angel, Ruiz-Ponte Clara, Abulí Anna, Bessa Xavier, Andreu Montserrat, Bujanda Luis, Caldés Trinidad, Castellví-Bel Sergi

Abstract excerpt

PURPOSE: Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutations in new genes is a likely explanation for the underlying predisposition in some of these familial cases....

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Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to Genetic Counseling

Share to Germ-Line Mutation

Share to High-Throughput Nucleotide Sequencing

Share to Loss of Heterozygosity

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Source

Open in PubMed Open full text

Identifiers

PMID: 25058500
DOI: 10.1038/gim.2014.89
PMCID: PMC4318970

Genes

APC
BARD1
EPHX1
MUTYH
NFKBIZ
SMARCA4
XRCC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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