Research Papers:

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

Elsa Curtit _, Vanessa Benhamo, Nadège Gruel, Tatiana Popova, Elodie Manie, Paul Cottu, Odette Mariani, Dominique Stoppa-Lyonnet, Xavier Pivot, Marc-Henri Stern and Anne Vincent-Salomon

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Oncotarget. 2015; 6:35616-35624. https://doi.org/10.18632/oncotarget.5348

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Elsa Curtit1,2,3,4,9, Vanessa Benhamo5, Nadège Gruel6,7, Tatiana Popova6, Elodie Manie6, Paul Cottu1, Odette Mariani8, Dominique Stoppa-Lyonnet8, Xavier Pivot2,3,4, Marc-Henri Stern6, Anne Vincent-Salomon5,8

1Department of Medical Oncology, Institut Curie, 75248 Paris, France

2Department of Medical Oncology, University Hospital, 25000 Besançon, France

3University of Franche-Comté, Medical Department, 25000 Besançon, France

4INSERM U1098, Medical Oncology Department, 25000 Besançon, France

5Université Paris Sciences Lettres, Medical Department, INSERM U934, Institut Curie, 75248 Paris, France

6Université Paris Sciences Lettres, Medical Department, INSERM U830, Institut Curie, 75248 Paris, France

7Department of Translational Research, Institut Curie, 75248 Paris, France

8Department of Pathology, Genetics and Immunology, Institut Curie, 75248 Paris, France

9Present affiliations: 2–4; affiliation when working on this case: 1

Correspondence to:

Elsa Curtit, e-mail: [email protected]

Keywords: breast cancer, BRCA1, HER2, sequencing

Received: June 22, 2015     Accepted: September 17, 2015     Published: September 29, 2015


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.

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