Immunohistochemical detection of a germline BRCA1 mutation in a breast and ovarian cancer family

A C Schofield, S Payne, V G Ross, I D Miller, S D Heys, N E Haites

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4 Citations (Scopus)


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 rumours 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. (C) 2000 Harcourt Publishers Ltd.

Original languageEnglish
Pages (from-to)286-291
Number of pages6
Publication statusPublished - 2000


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