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Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

Breast cancer research and treatment - 1 Nov 2010

Zuradelli Monica, Peissel Bernard, Manoukian Siranoush, Zaffaroni Daniela, Barile Monica, Pensotti Valeria, Cavallari Ugo, Masci Giovanna, Mariette Frederique, Benski Anne Caroline, Santoro Armando, Radice Paolo

Abstract excerpt

Double heterozygosity (DH) for BRCA1 and BRCA2 mutations is a very rare finding, particularly in non-Ashkenazi individuals, and only a few cases have been reported to date. In addition, little is known on the pathological features of the tumors that occur in DH cases and on their family history of cancer. Four carriers of pathogenic mutations in both BRCA1 and BRCA2 were identified among women who underwent...

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Identifiers

PMID: 20373018
DOI: 10.1007/s10549-010-0853-8

Genes

BRCA1
BRCA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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