Ontology highlight
ABSTRACT:
SUBMITTER: Curtit E
PROVIDER: S-EPMC4742129 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Curtit Elsa E Benhamo Vanessa V Gruel Nadège N Popova Tatiana T Manie Elodie E Cottu Paul P Mariani Odette O Stoppa-Lyonnet Dominique D Pivot Xavier X Stern Marc-Henri MH Vincent-Salomon Anne A
Oncotarget 20151101 34
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 mut ...[more]