Abstract

FERNANDEZ, Ángel  and  REIGOSA, Aldo. BRCA1 expression in benign and malignant breast lesions. Invest. clín [online]. 2016, vol.57, n.4, pp.330-351. ISSN 0535-5133.

The majority of breast cancers are sporadic cancers; however, there is an estima¬ted proportion of 5% to 10%, where a hereditary predisposition appears, mainly associated with germline mutations in the BRCA1 and BRCA2 genes. Such mutations increase the predis-position to develop the disease during the course of life. The overall objective of this work was to evaluate the expression of the BRCA1 gene by immunohistochemistry (IHC). The study was conducted in women diagnosed with benign lesions or invasive breast ductal carcinoma in follow-up care at the Institute of Oncology “Dr. Miguel Perez Carreño” in Valencia, Venezuela. Expression of the BRCA1 protein was analyzed and the results were compared with the benign lesions classification given by DuPont and Page and the intrinsic molecular subtypes defined by IHC. From this analysis it was found that in both, non-infiltrative lesions (proliferative and carcinoma in situ), as well as in infiltrating carcinomas, predominated the cases with BRCA1 nuclear labeling by IHC (≤10 %). Furthermore, the relationship of expression of BRCA1 with the average overall survival, showed a poor prognostic value obtained when the nuclear and cytoplasmic expression of BRCA1 was ≤10%, with p<0.05. Finally, based on the results, it is suggested that the assessment of BRCA1 expression by IHC should be included in the approach algorithm of women at risk of developing breast cancer.

Keywords : breast cancer; BRCA1; immunohistochemistry.

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