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JHC exPRESS: First Published July 11, 2007. doi:10.1369/jhc.7A7209.2007
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A more recent version of this article appeared on November 1, 2007.
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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 1*, Patrícia M. Machado 1, Rita D. Brandão 1, Cátia T. Laranjeira 1, Joana S. Eugénio 1, Aires H. Fernandes 1 and Saudade P. André 1

1 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, Lisboa, Portugal

* To whom correspondence should be addressed. E-mail: fvaz{at}ipolisboa.min-saude.pt .

Submitted on February 6, 2007
Accepted on 11 June 2007


  Abstract
Only 20-25% of families screened for BRCA/2 mutations are found positive. Since 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 CSGE and MLPA. 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, 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 negative tumors 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.

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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