Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

doi:10.1053/j.gastro.2015.05.056

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Article

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.

Gastroenterology - 1 Sept 2015

Seguí Nuria, Mina Leonardo B, Lázaro Conxi, Sanz-Pamplona Rebeca, Pons Tirso, Navarro Matilde, Bellido Fernando, López-Doriga Adriana, Valdés-Mas Rafael, Pineda Marta, Guinó Elisabet, Vidal August, Soto José Luís, Caldés Trinidad, Durán Mercedes, Urioste Miguel, Rueda Daniel, Brunet Joan, Balbín Milagros, Blay Pilar, Iglesias Silvia, Garré Pilar, Lastra Enrique, Sánchez-Heras Ana Beatriz, Valencia Alfonso, Moreno Victor, Pujana Miguel Ángel, Villanueva Alberto, Blanco Ignacio, Capellá Gabriel, Surrallés Jordi, Puente Xose S, Valle Laura

Abstract excerpt

Identification of genes associated with hereditary cancers facilitates management of patients with family histories of cancer. We performed exome sequencing of DNA from 3 individuals from a family with colorectal cancer who met the Amsterdam criteria for risk of hereditary nonpolyposis colorectal cancer. These individuals had mismatch repair-proficient tumors and each carried nonsense variant in the...

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Identifiers

PMID: 26052075
DOI: 10.1053/j.gastro.2015.05.056

Genes

FAN1
FANCD2
FANCI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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