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Article

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

International journal of molecular sciences - 20 Sept 2023

Al Saati Ayman, Vande Perre Pierre, Plenecassagnes Julien, Gilhodes Julia, Monselet Nils, Cabarrou Bastien, Lignon Norbert, Filleron Thomas, Telly Dominique, Perello-Lestrade Emilie, Feillel Viviane, Staub Anne, Martinez Mathilde, Chipoulet Edith, Collet Gaëlle, Thomas Fabienne, Gladieff Laurence, Toulas Christine

Abstract excerpt

Even though male breast cancer (MBC) risk encompasses both genetic and environmental aetiologies, the primary risk factor is a germline pathogenic variant (PV) or likely pathogenic variant (LPV) in BRCA2, BRCA1 and/or PALB2 genes. To identify new potential MBC-specific predisposition genes, we sequenced a panel of 585 carcinogenesis genes in an MBC cohort without BRCA1/BRCA2/PALB2 PV/LPV. We identified 14 genes...

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Source

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Identifiers

PMID: 37762649
DOI: 10.3390/ijms241814348
PMCID: PMC10531866

Genes

BRCA1
BRCA2
PALB2
ERCC2
HOXA9
PALLD
PRCC
RECQL4
WRN

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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