title: First description of a sporadic breast cancer in a woman with BRCA1 germline mutation.
abstract: We describe the case of a woman carrying a germline pathogenic BRCA1 mutation diagnosed with a breast cancer overexpressing HER2. Clinical presentation of the tumor, HER2-positivity, genomic profile and loss of the mutated BRCA1 allele in tumor evidence that BRCA1 is not inactivated in this breast cancer. It represents the first biological demonstration for the existence of a sporadic HER2-positive breast cancer independent from BRCA loss of function in a woman carrier of a deleterious BRCA1 mutation. In a context where targeted therapies based on BRCA loss of function in the tumor are developed, such case could have direct implications.
authors.affiliation: Department of Medical Oncology, Institut Curie, 75248 Paris, France.|Department of Medical Oncology, University Hospital, 25000 Besançon, France.|Medical Department, University of Franche-Comté, 25000 Besançon, France.|Medical Oncology Department, INSERM U1098, 25000 Besançon, France.|Present affiliations: 2-4; affiliation when working on this case: 1.
authors.forename: Elsa
authors.initials: E
authors.lastname: Curtit
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U934, Institut Curie, 75248 Paris, France.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Benhamo
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U830, Institut Curie, 75248 Paris, France.|Department of Translational Research, Institut Curie, 75248 Paris, France.
authors.forename: Nadège
authors.initials: N
authors.lastname: Gruel
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U830, Institut Curie, 75248 Paris, France.
authors.forename: Tatiana
authors.initials: T
authors.lastname: Popova
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U830, Institut Curie, 75248 Paris, France.
authors.forename: Elodie
authors.initials: E
authors.lastname: Manie
authors.affiliation: Department of Medical Oncology, Institut Curie, 75248 Paris, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Cottu
authors.affiliation: Department of Pathology, Genetics and Immunology, Institut Curie, 75248 Paris, France.
authors.forename: Odette
authors.initials: O
authors.lastname: Mariani
authors.affiliation: Department of Pathology, Genetics and Immunology, Institut Curie, 75248 Paris, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.affiliation: Department of Medical Oncology, University Hospital, 25000 Besançon, France.|Medical Department, University of Franche-Comté, 25000 Besançon, France.|Medical Oncology Department, INSERM U1098, 25000 Besançon, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Pivot
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U830, Institut Curie, 75248 Paris, France.
authors.forename: Marc-Henri
authors.initials: MH
authors.lastname: Stern
authors.affiliation: Université Paris Sciences Lettres, Medical Department, INSERM U934, Institut Curie, 75248 Paris, France.|Department of Pathology, Genetics and Immunology, Institut Curie, 75248 Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Vincent-Salomon
mesh_terms: D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018270:Carcinoma, Ductal, Breast / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D059248:Chemoradiotherapy; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic; D018719:Erb-b2 Receptor Tyrosine Kinases / Q000378:metabolism; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D018719:Erb-b2 Receptor Tyrosine Kinases; C508053:ERBB2 protein, human
keywords: BRCA1; HER2; breast cancer; sequencing