Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer

Document Type : Short Communication

Authors
Atieh Zorrieh Zahra 1
Sepideh Kadkhoda 1
Farkhondeh Behjati 1
Fatemeh Aghakhani Moghaddam 1
Azadeh Badiei 1
Fereidoon Sirati 2
Hossein Afshin Alavi 3
Morteza Atri 2
Ramesh Omranipour 2
Elahe Keyhani 1
1 Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2 Cancer Institute- Department of surgery- Tehran University of Medical Sciences, Tehran, Iran
3 Pathology Ward-Day hospital,Tehran, Iran
Abstract
Male breast cancer is a rare disease with an increasing trend. Due to limited information especially about the
genetic basis of the disease in Iran and the lower age of its onset, the disease requires more attention. The aim of
this study was to screen the male patients with breast cancer for BRCA mutations as well as tissue markers of
estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor (HER-2) and
cytokeratin 5/6 (CK5/6). Ten Iranian males with breast cancer were selected regardless of their histologic
subtypes, age and family history from patients referred to Mehrad, Day and Parsian hospitals in Tehran, Iran,
during a two-year period. Paraffin blocks of the tumoral regions were tested for ER, PR, HER-2 and CK5/6
immunostaining. DNA extraction was carried out on the EDTA blood samples followed by Sanger sequencing.
Immunohistochemistry results for ER, and PR were negative in 2 out of 10 patients, while the results of HER-2
and CK5/6 were negative in all the cases. A missense mutation in exon 18 of BRCA1 and a nonsense mutation in
exon 25 of in BRCA2 were detected in one patient each. Both patients belonged to luminal A subtype. Despite
the low number of patients in this study, it could be concluded that mutations in BRCA1 and BRCA2 occur in
male breast cancer patients of luminal A subtype. The negative status of the tissue markers could not be used for
the prediction of BRCA mutations.
Keywords
Male breast cancer
BRCA genes
human epidermal growth factor receptor
cytokeratin 5/6
estrogen receptor
progesterone receptor