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Article

Germline Pathogenic Variants in Homologous Recombination Pathway Genes Are Frequent in Pancreatobiliary Ampullary Carcinoma.

JCO precision oncology - 1 Apr 2026

Misyura Maksym, Selenica Pier, Ozcan Kerem, Kemel Yelena, Basturk Olca, O'Reilly Eileen M, Reis-Filho Jorge S, Beets-Tan Regina, Stadler Zsofia K, Weigelt Britta, Mandelker Diana

Abstract excerpt

PURPOSE: Ampullary carcinoma (AMPCA) is a rare cancer classified into subtypes depending on the histologic appearance and epithelium of origin. To gain insights into the germline genetic factors driving predisposition to AMPCA, the analysis focused on the role of homologous recombination (HR) genes in its oncogenesis. METHODS: We analyzed germline testing results from 26,159 patients with cancer undergoing...

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Aged
ATM gene
BRCA2 gene
PALB2 gene
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

Homologous Recombination

Pancreatic Neoplasms

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Open in PubMed Open full text

Identifiers

PMID: 41990295
DOI: 10.1200/PO-25-00596
PMCID: PMC13098666

Genes

ATM
BRCA1
BRCA2
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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