title: First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.
abstract: 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.
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Meynard
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Laura
authors.initials: L
authors.lastname: Mansi
authors.affiliation: Pathway Genomics Corporation, San Diego, CA 92121, USA.
authors.forename: Pierre
authors.initials: P
authors.lastname: Lebahar
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Cristian
authors.initials: C
authors.lastname: Villanueva
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Elodie
authors.initials: E
authors.lastname: Klajer
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Fabien
authors.initials: F
authors.lastname: Calcagno
authors.affiliation: Pathway Genomics Corporation, San Diego, CA 92121, USA.
authors.forename: Adrian
authors.initials: A
authors.lastname: Vivalta
authors.affiliation: Department of Medical Oncology, University Hospital, 21079 Dijon, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Chaix
authors.affiliation: University of Franche-Comté, 25000 Besançon, France.
authors.forename: Marie-Agnès
authors.initials: MA
authors.lastname: Collonge-Rame
authors.affiliation: University of Franche-Comté, 25000 Besançon, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Populaire
authors.affiliation: University of Franche-Comté, 25000 Besançon, France.
authors.forename: Marie-Paule
authors.initials: MP
authors.lastname: Algros
authors.affiliation: University of Franche-Comté, 25000 Besançon, France.
authors.forename: Prudence
authors.initials: P
authors.lastname: Colpart
authors.affiliation: Pathway Genomics Corporation, San Diego, CA 92121, USA.
authors.forename: Julie
authors.initials: J
authors.lastname: Neidich
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Pivot
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.
authors.forename: Elsa
authors.initials: E
authors.lastname: Curtit
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human