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

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.

Impact of triple negative phenotype on prognosis and early onset of breast cancer in Iranian females.

BACKGROUND: Breast cancer in Iranian women occurs about a decade earlier than in Western countries. This study sought to evaluate the impact of triple negative phenotype on early onset of ductal cell breast cancer and its prognosis in Iranian females. METHODS: Estrogen and progesterone receptors, Her-2 overexpression and nuclear accumulation of P53 were assessed in sixty surgically resected formalin-fixed paraffin embedded breast invasive ductal carcinomas. They were divided into triple negative and non triple negative phenotypes and impact of the phenotypes were evaluated on prognostic factors of all patients and based on menopausal status. RESULTS: The result showed that the mean age of patients with triple negative breast tumors, especially in postmenopausal group, was significantly lower than with non triple negative phenotypes. Although the latter was significantly associated with higher histological grade, it also showed a significant correlation with smaller size of tumor and a lower rate of axillary lymph node metastasis in young patients. CONCLUSION: The higher rate of breast cancer with triple negative phenotype in Iranian females is a feasible reason for the reported lower mean age of breast cancers. In premenopausal patients, triple negative phenotype reveals a positive impact on prognostic factors, but it is associated with a poorer prognosis in postmenopausal patients. Hence, a distinct ethnic profile of triple negative phenotype in Iranian females is suggested.

Mutations of RAS gene family in specimens of bladder cancer.

INTRODUCTION: Studies have shown different types of RAS mutations in human bladder tumors with a wide range of mutation frequencies in different patient populations. This study aimed to assess the frequency of specific-point mutations in the RAS gene family of a group of Iranian patients with bladder cancer. MATERIALS AND METHODS: We examined the tumor specimens of 35 consecutive patients with transitional cell carcinoma. The DNA samples were evaluated for the occurrence of HRAS, KRAS, and NRAS activation using a polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: None of the patients had mutations in the RAS gene family "hot spots" including codons 12, 13, and 61. CONCLUSION: We failed to find RAS mutations in our bladder tumor samples. These observations may reflect the involvement of different etiological factors in the induction of bladder tumor of which RAS mutation might not be present in all populations.