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 انگليسی
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 ) |
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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 |
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 |
فقط پرسنل کتابخانه صفحه کنترل اسناد