First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.
Fiche publication
Date publication
mars 2017
Journal
Oncology reports
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PIVOT Xavier, Dr CURTIT Elsa, Dr MANSI Laura, Dr COLLONGE-RAME Marie-Agnès
Tous les auteurs :
Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vivalta A, Chaix M, Collonge-Rame MA, Populaire C, Algros MP, Colpart P, Neidich J, Pivot X, Curtit E
Lien Pubmed
Résumé
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 the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene. There is no known Ashkenazi Jewish ancestry. We report the first description of a never described double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient, with two distinct histology, and two distinct mutations.
Mots clés
BRCA1 Protein, genetics, BRCA2 Protein, genetics, Breast Neoplasms, genetics, Female, Genetic Carrier Screening, Genetic Predisposition to Disease, Humans, Middle Aged, Mutation, genetics, Pedigree, Prognosis
Référence
Oncol. Rep.. 2017 Mar;37(3):1573-1578