title: Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.
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.
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; These authors had equal contribution.
authors.forename: Atieh
authors.initials: A
authors.lastname: Zorrieh Zahra
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; These authors had equal contribution.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Kadkhoda
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Farkhondeh
authors.initials: F
authors.lastname: Behjati
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Aghakhani Moghaddam
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Badiei
authors.affiliation: Cancer Institute- Department of surgery- Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fereidoon
authors.initials: F
authors.lastname: Sirati
authors.affiliation: Pathology Ward-Day hospital,Tehran, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Afshin Alavi
authors.affiliation: Cancer Institute- Department of surgery- Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Atri
authors.affiliation: Cancer Institute- Department of surgery- Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ramesh
authors.initials: R
authors.lastname: Omranipour
authors.affiliation: Genetics Research Center-University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
authors.forename: Elahe
authors.initials: E
authors.lastname: Keyhani
keywords: BRCA genes; Male breast cancer; cytokeratin 5/6; estrogen receptor; human epidermal growth factor receptor; progesterone receptor