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

Date publication

novembre 2015

Auteurs

Membres identifiés du Cancéropôle Est :
Pr PIVOT Xavier

Tous les auteurs :
Curtit E, Benhamo V, Gruel N, Popova T, Manie E, Cottu P, Mariani O, Stoppa-Lyonnet D, Pivot X, Stern MH, Vincent-Salomon A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/26426992

Résumé

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.

Référence

Oncotarget. 2015 Nov 3;6(34):35616-24