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Familial Breast/Ovarian Cancer and BRCA1/2 Genetic Screening: The Role of Immunohistochemistry as an Additional Method in the Selection of Patients

Fátima H. Vaz, Patrícia M. Machado, Rita D. Brandão, Cátia T. Laranjeira, Joana S. Eugénio, Aires H. Fernandes and Saudade P. André

Breast Cancer Risk Evaluation Clinic (FHV,AHF), Department of Molecular Biology (FHV,PMM,RDB,CTL,JSE), and Department of Pathology (CTL,SPA), Instituto Português de Oncologia de Lisboa, Francisco Gentil, Portugal

Correspondence to: Fátima Vaz, MD, Consulta de Risco Familiar de Cancro da Mama e Ovário, Serviço de Oncologia Médica, Instituto Português de Oncologia de Francisco Gentil, Rua Prof. Lima Basto, 1099-023 Lisboa, Portugal. E-mail: fvaz{at}ipolisboa.min-saude.pt

Only 20–25% of families screened for BRCA1/2 mutations are found positive. Because only a positive result is informative, we studied the role of BRCA1/2 immunohistochemistry as an additional method for patient selection. From 53 high-risk-affected probands, 18 (34%) had available paraffin blocks of their tumors and were selected for this study. Mutation screening was done by conformation-sensitive gel electrophoresis and multiplex ligation-dependent probe amplification. For immunohistochemistry, 21 neoplastic specimens (15 breast carcinomas, 5 ovary neoplasms, and 1 rectal adenocarcinoma) were analyzed with BRCA1 (monoclonal antibody, Ab-1, oncogene) and BRCA2 (polyclonal antibody, Ab-2, oncogene) antibodies. Absence of the BRCA1 protein was confirmed in negative tumors by Western blotting. Seven patients were positive for BRCA1/2 mutations: 5 for BRCA1 and 2 for BRCA2. Four out of five positive patients had tumors negative for BRCA1 immunostaining, and the remaining 13 BRCA1-negative patients had positive BRCA1 immunostaining in all tumor samples. Sensitivity to predict for BRCA1 mutation carriers was 80%, and specificity was 100%, with a positive predictive value of 100% and a negative predictive value of 93%. This correlation was statistically significant (p=0.001). No correlation was observed for BRCA2. If larger studies confirm these results, high-risk patients with BRCA1-negative tumors should be screened first for this gene. (J Histochem Cytochem 55:1105–1113, 2007)

Key Words: BRCA1/2 • genetic screening • hereditary breast cancer • immunohistochemistry

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				F. H. Vaz, P. M. Machado, R. D. Brandao, C. T. Laranjeira, J. S. Eugenio, A. H. Fernandes, and S. P. Andre Familial Breast/Ovarian Cancer and BRCA1/2 Genetic Screening: The Role of Immunohistochemistry as an Additional Method in the Selection of Patients J. Histochem. Cytochem., November 1, 2007; 55(11): 1105 - 1113. [Abstract] [Full Text] [PDF]

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