Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.

doi:10.1016/j.ejca.2024.114226

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Article

Germline pathogenic variants of cancer predisposition genes in a multicentre Italian cohort of pancreatic cancer patients.

European journal of cancer (Oxford, England : 1990) - 1 Sept 2024

Orsi Giulia, Carconi Catia, Ghiorzo Paola, Carrera Paola, Pastorino Lorenza, Presi Silvia, Chiaravalli Marta, Barbieri Elena, Giordano Guido, Sciallero Stefania, Puccini Alberto, Salvatore Lisa, Cortesi Laura, Macchini Marina, Natalicchio Maria Iole, Allavena Eleonora, Pirrone Chiara, Archibugi Livia, Dalmasso Bruna, Bruno William, Tortora Giampaolo, Landriscina Matteo, Capurso Gabriele, Cascinu Stefano, Falconi Massimo, Reni Michele

Abstract excerpt

BACKGROUND AND AIM: Germline BRCA1-2 test is routinely recommended in Pancreatic Cancer (PC) patients, due to its clinical-epidemiological relevance. Data on the prevalence of germline pathogenic variants (gPV) in other cancer predisposition and DNA Damage Repair (DDR) system-related genes in unselected PC cases are sparce in Italy. We assessed this prevalence in a multicentre cohort, to derive recommendations...

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PMID: 39029294
DOI: 10.1016/j.ejca.2024.114226

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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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