Article
First description of a sporadic breast cancer in a woman with BRCA1 germline mutation.
Oncotarget - 3 Nov 2015
Curtit Elsa, Benhamo Vanessa, Gruel Nadège, Popova Tatiana, Manie Elodie, Cottu Paul, Mariani Odette, Stoppa-Lyonnet Dominique, Pivot Xavier, Stern Marc-Henri, Vincent-Salomon Anne
Abstract excerpt
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...
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