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Article

Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.

European journal of human genetics : EJHG - 1 Nov 2023

Corso Giovanni, Marabelli Monica, Calvello Mariarosaria, Gandini Sara, Risti Matilde, Feroce Irene, Mannucci Sara, Girardi Antonia, De Scalzi Alessandra Margherita, Magnoni Francesca, Marino Elena, Bernard Loris, Veronesi Paolo, Guerini-Rocco Elena, Barberis Massimo, Guerrieri-Gonzaga Aliana, Bonanni Bernardo

Abstract excerpt

Metaplastic breast cancer (MpBC) is a rare, aggressive breast cancer (BC) histotype. Scarce information is available about MpBC genetic predisposition. Previous studies, mainly consisting of case reports, retrospective reviews and others on target therapies, pointed to a possible involvement of the BRCA1 gene in increasing MpBC risk, without ever confirming it. In this study, we retrospectively reviewed all BC...

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Identifiers

PMID: 37460658
DOI: 10.1038/s41431-023-01429-2
PMCID: PMC10620155

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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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