title

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

مهدی پور, پروین ، حسینی اصل, سید سعید ، صوابی, آرزو ، عزتی زاده, وحید ، حبیبی, لاله ، الوندی, احسان ، پیروزپناه, سعید ، 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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عنوان انگليسي

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

خلاصه انگلیسی

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.

نوع سند :موضوع کنفرانس یا کارگاه (پوستر )
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
کلید واژه ها (انگلیسی):BRCA1 , BRCA2 , breast cancer , genes
موضوعات :QY آسیب شناسی بالینی
WP بیماریهای زنان
بخش های دانشگاهی :دانشكده پزشكي > گروه علوم پایه > بخش ژنتیک
کد شناسایی :4247
ارائه شده توسط : دکتر سید سعید حسینی اصل
ارائه شده در تاریخ :16 مرداد 1392 09:30
آخرین تغییر :07 مهر 1393 06:38

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