title: Immunohistochemical detection of a germline BRCA1 mutation in a breast and ovarian cancer family.
abstract: Tumours from four individuals in a breast and ovarian cancer family with a known deleterious germline BRCA1 mutation, were analyzed using BRCA1 antibodies. In addition, we examined tumours from 96 female patients with early-onset breast cancer, who were not selected because of any family history. Paraffin-embedded tumour sections were examined by standard immunohistochemical analysis. Three familial tumours from BRCA1 carriers displayed focal negativity. This observation was not seen in a non-mutation carrier from the same family. It was found that 9/96 (9%) early-onset breast tumours had total BRCA1 negativity. In addition, 2/2 (100%) medullary breast carcinomas displayed negativity for both antibodies. Our results indicate that BRCA1 antibodies can discriminate between familial tumours with and without a deleterious mutation from one family. Further mutation studies in early-onset breast cancer group will be necessary to evaluate the use of immunohistochemistry as a rapid, initial screening technique to identify BRCA1 mutations.
authors.affiliation: Department of Surgery, University of Aberdeen, Medical School, Foresterhill, Aberdeen AB25 2ZD, UK. a.schofield@abdn.ac.uk
authors.forename: A C
authors.initials: AC
authors.lastname: Schofied
authors.forename: S
authors.initials: S
authors.lastname: Payne
authors.forename: V G
authors.initials: VG
authors.lastname: Ross
authors.forename: I D
authors.initials: ID
authors.lastname: Miller
authors.forename: S D
authors.initials: SD
authors.lastname: Heys
authors.forename: N E
authors.initials: NE
authors.lastname: Haites