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First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.

Oncology reports - 1 Mar 2017

Meynard Guillaume, Mansi Laura, Lebahar Pierre, Villanueva Cristian, Klajer Elodie, Calcagno Fabien, Vivalta Adrian, Chaix Marie, Collonge-Rame Marie-Agnès, Populaire Céline, Algros Marie-Paule, Colpart Prudence, Neidich Julie, Pivot Xavier, Curtit Elsa

Abstract excerpt

Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed...

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Identifiers

PMID: 28184945
DOI: 10.3892/or.2017.5422

Genes

BRCA1
BRCA2

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