Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

doi:10.1053/j.gastro.2016.12.010

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Article

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Gastroenterology - 1 Apr 2017

Sahasrabudhe Ruta, Lott Paul, Bohorquez Mabel, Toal Ted, Estrada Ana P, Suarez John J, Brea-Fernández Alejandro, Cameselle-Teijeiro José, Pinto Carla, Ramos Irma, Mantilla Alejandra, Prieto Rodrigo, Corvalan Alejandro, Norero Enrique, Alvarez Carolina, Tapia Teresa, Carvallo Pilar, Gonzalez Luz M, Cock-Rada Alicia, Solano Angela, Neffa Florencia, Della Valle Adriana, Yau Chris, Soares Gabriela, Borowsky Alexander, Hu Nan, He Li-Ji, Han Xiao-You, Taylor Philip R, Goldstein Alisa M, Torres Javier, Echeverry Magdalena, Ruiz-Ponte Clara, Teixeira Manuel R, Carvajal-Carmona Luis G

Abstract excerpt

Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood samples from 28 patients with hereditary diffuse gastric cancer (HDGC) not associated with mutations in CDH1 and performed whole-exome sequence analysis. We then analyzed sequences of candidate...

Topics

Aged
Aged, 80 and over
BRCA1 Protein
DNA-Binding Proteins
Fanconi Anemia Complementation Group N Protein
Female
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Humans

Male

Middle Aged

Mutation

Nuclear Proteins

Recombinational DNA Repair

Stomach Neoplasms

Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 28024868
DOI: 10.1053/j.gastro.2016.12.010
PMCID: PMC5367981

Genes

BRCA1
CDH1
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-28024868-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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