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BRCA1 and BRCA2 are two prominent genes that account for about 20–40% of inherited breast cancer. Mutations in these genes are often associated with clustering of especially early-onset cancers in the family. The spectrum of BRCA variants showed a significant difference between geographic regions and ethnicities. The frequency and spectrum of BRCA mutations in Iran, a country in southwest Asia, have not yet been thoroughly studied. Here, for the first time, all published and not published BRCA pathogenic variants are presented. Among 1040 high risk families (1258 cases) which were detected, 116 families were found to carry pathogenic variants in either BRCA1 or BRCA2. Altogether 89 distinct types of pathogenic variants have been detected in Iran, including 41 in BRCA1 and 48 in BRCA2. 16 out of 89 mutations had not been previously reported in Iran and are presented for the first time in this article, among which 4 mutations are novel worldwide. 20% of families had one of the seven most commonly observed mutations, including c.81-1G > C, c.66_67delAG, c.4609C>T, c.1568delT, c.1961delA, in BRCA1 and: c.3751_3752insA, c.8585dupT in BRCA2. Combining the data from published articles and our study which has not been published before, a comprehensive table is created as a reference for entire BRCA pathogenic variants and their frequencies in Iran. [ABSTRACT FROM AUTHOR]

Background: The study aimed at evaluating steroid biomarker genes (ERα, PGR, ERβ) and determining the expression level of estrogen-regulated genes (SCUB2 and BCL2) and growth factors receptors (HER2 and IGFR1) in cancer tissue samples obtained from Iranian patients with breast cancer. Moreover, relationships with clinicopathologic aspects of tumor and response to treatment were studied. Methods: The current study was conducted on 246 breast tissue samples. The expression levels of these genes and their relationships with clinicopathologic aspects and treatment response were evaluated. Results: Based on immunohistochemistry (IHC) results, 12% of the ER negative patients expressed ERα. Comparing the effects of ERα and coexpression of BCL2 and SCUBE2 on the survival of the patients demonstrated remarkably poorer survival in ERα positive, SCUBE2, and BCL2 negative groups in comparison with other patients, which was statistically significant in the logrank analysis (P = 0.01). Evaluation of the effects of coexpression of HER2 and IGFR1 on patients' survival demonstrated a worse survival rate in patients with positive expression of both receptors, which was insignificant. Conclusion: Many studies suggest that PGR alone is not enough for the functional evaluation of ERα. Evaluation of the progesterone receptor expression as well as other genes such as BLC2, SCUBE2, and IGFR1, seems necessary to evaluate functionality. [ABSTRACT FROM AUTHOR]

Aim: Breast cancer is the most common cancer among women worldwide. Science has already proved that some breast cancer genes are inherited from parents. It is generally believed that the probability of cancer diagnosis in carriers of those genes is considerably higher than the normal population. It is in the same direction that modern medicine has introduced prophylactic mastectomy - one of the key preventive methods which is the focus of the present research. Nevertheless, whether women that have been diagnosed with breast cancer would take this approach depends on their local culture and their set of beliefs. In this regard, the present research was meant to evaluate the acceptability rate of prophylactic mastectomy among women in Iran after they are informed of the positive genetic test results.Methods: Six hundred and five healthy women, who had no history of breast cancer, were selected by nonprobability sampling method. A predesigned questionnaire was filled out by the interviewer.Results: Results showed that about 15% of respondents were willing to pick the prophylactic mastectomy in case they are identified as carriers of breast cancer genes. Twenty-two percent of participants with positive family history was agreed with prophylactic mastectomy while in the negative family history group it was about 14%.Conclusion: Preventive mastectomy has a higher rate of acceptability among women who have had a family history of breast cancer. Therefore, it may be concluded that raising public awareness about the advantages of prophylactic mastectomy could help better address breast cancer in Iran. [ABSTRACT FROM AUTHOR]