بررسی جهش بنیان گذار در ژنهای BRCA1 و BRCA2 در بیماران ایرانی مبتلا به سرطان پستان

مهدی پور, پروین and حسینی اصل, سید سعید and صوابی, آرزو and عزتی زاده, وحید and حبیبی, لاله and الوندی, احسان and پیروزپناه, سعید and عطری, مرتضی (1384) بررسی جهش بنیان گذار در ژنهای BRCA1 و BRCA2 در بیماران ایرانی مبتلا به سرطان پستان. در: The Second International Congress on Cancer Genetics: Tumors of the Upper Body , 30Nov-2Dec, 2006, Tehran, Iran.

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The founder mutation analysis of BRCA1 and BRCA2 genes in Iranian breast cancer genes

English Abstract

Objective: The mutations in two breast cancer susceptibility genes, including BRCA1 and BRCA2, are frequently associated with familial breast cancer. There are a few identical of founder mutations BRCA1 and BRCA2 appears to predispose a substantial proportion of high-risk families. Therefore, we aimed to investigate the probable founder mutations in 400 Iranian affected patients with primary breast cancer. Methods: Totally 800 patients affected with primary breast cancer included in this study. Mutation detection was carried out on the basis of a PCR-based amplification and two founder mutations for BRCA1 (185delAG, 5382insC) and one for BRCA2 were screened by considering pedigree analysis. Results: A positive family history of BC and other malignancies were recorded in 27.5% and 52% of patients' pedigrees, respectively. The most frequent occurrence of breast cancer across four generations revealed to be in 1st degree in 3rd generation 50%, in 2nd degree in 2nd generation 68.8% and in 3rd degree in 3rd generation 59.5%. The 185delAG mutation in the BRCA1 gene was found in 2/400 investigated pedigrees. The 185delAG mutation in the BRCA1 gene was found in 0.5% of Iranian participants, including two sisters of the same family. To our interest both sisters carry similsr genetic alteration of the genes, which had a complete penetrance. However, the identical mutation was observed in two different organic targeting, at almost an early age of onset.

Item Type:Conference or Workshop Item (Poster)
زبان سند : انگلیسی
نویسنده مسئول :پروین مهدی پور
نویسنده :سید سعید حسینی اصل
نویسنده :آرزو صوابی
نویسنده :وحید عزتی زاده
نویسنده :لاله حبیبی
نویسنده :احسان الوندی
نویسنده :سعید پیروزپناه
نویسنده :مرتضی عطری
کلیدواژه ها (انگلیسی):BRCA1 , BRCA2 , breast cancer , genes
Subjects:QY Clinical Pathology
WP Gynecology
Divisions:Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:4247
Deposited By: Dr S Saied Hosseini-Asl
Deposited On:16 May 1392 09:30
Last Modified:07 Jul 1393 06:38

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