ژنهای مستعد کننده در یک جمعیت سرطان پستان ایرانی:BRCA1 ، BRCA2 ، ATM و AR

مهدی پور, پروین ، محمدی, جواد ، حبیبی, لاله ، پیروزپناه, سعید ، خیراللهی, مجید ، حسینی اصل, سید سعید ، عطری, مرتضی (1385) ژنهای مستعد کننده در یک جمعیت سرطان پستان ایرانی:BRCA1 ، BRCA2 ، ATM و AR. در: The Second International Congress on Cancer Genetics: Tumors of the Upper Body, 30Nov-2Dec, 2006, Tehran, Iran.

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عنوان انگليسي

Susceptibility genes in an Iranian breast cancer population: BRCA1, BRCA2, ATM and AR

خلاصه انگلیسی

Introduction: A-breast tumor has a complex nature and concerns as a leading cause of death from cancer in most countries. Epidemiologic studies of familial aggregation have long been provided promising evidences that a family history is a principal risk factor for the disease. Germline mutations in either BRCA1 or BRCA2 are responsible for the majority of hereditary breast and ovarian cancers. Over 800 distinct BRCA1 and over 900 BRCA2 mutations have been identified. To date, within the Iranian population only a small number of germline mutations in BRCA1 and BRCA2 have been identified in wemon with early-onset breast. B-Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease, involved in a wide range of solid tumors and may play a role in sporadic breast cancer and leukemia. Is ATM gene considered as a risk factor for breast cancer? Heterozygosity, LOH, truncated protein, and germline ATM sequence variants in AT families have been reported, but the evaluation of increased risk is still unclear. Regarding the exposure to ionizing radiation, the cellular events seem to be ATM-dependent functions. C-Androgen receptor gene (AR) has a polymorphic CAG-repeat in exon 1 and is considered as a susceptibility allele & phenotypic modifier in BRCA1-associated breast cancer (BC). AR-CAG allele size is associated with BC penetrance in BRCA1 mutation carriers. Wemon were at significant increased risk of BC if they carried at least one AR allele with >27 CAG repeats. The association for the longer two AR alleles is found to be 5% increase in BC-risk. Materials and methods: Blood samples of 300 probands affected with breast cancer were collected. DNAs were extracted by standard procedure, and the informative aspects, regarding the family histories in order to draw the pedigrees, and clinical were gathered. The BRCA gene has been analysed by using the Applied Biosystem ABI sequencer. Results and discussion: Polymorphism 441A>G BRCA2 in exon 11 of BRCA2 in 5 out of 300 probands affected with BC. BRCA2 4643del4 and BRCA1-53C>T IVS17 were also found. As a matter of fact, BRCA2 mutations are more involved in inherited breast cancer in the Iranian population or to the existence of mutations in unknown breast cancer susceptibility genes leading to the disease remains to be investigated in larger studies. Regarding the ATM gene, we found a heterozygotic polymorphism of exon 16 in 3 of 50 probands affected with BC. An association was found between a longer CAG-repeat of AR gene and metastasis in patients of BC who had a positive family history of BC. Longer survival was attained significantly in patients of BC who have higher repeats of CAG (Lower: 69.2±2.1 vs. higher: 76.0±2.9, P<0.05). This alteration could be used as a preventive management. Further investigation of our Database, within the frame of Cancer Genetics Epidemiology and clinical follow-up study is in progress. A germline mutation, not even in a BRCA gene, but the genetic alterations in other susceptibility genes, including ATM and AR could play the important roles in BC. Thus cancer occurrence is likely the expression of a highly penetrant genetic predisposition.

نوع سند :موضوع کنفرانس یا کارگاه (سخنرانی )
زبان سند : انگلیسی
نویسنده مسئول :پروین مهدی پور
نویسنده :جواد محمدی
نویسنده :لاله حبیبی
نویسنده :سعید پیروزپناه
نویسنده :مجید خیراللهی
نویسنده :سید سعید حسینی اصل
نویسنده :مرتضی عطری
کلید واژه ها (انگلیسی):BRCA1 , BRCA2 , breast cancer
موضوعات :QY آسیب شناسی بالینی
WP بیماریهای زنان
بخش های دانشگاهی :دانشكده پزشكي > گروه علوم پایه > بخش ژنتیک
کد شناسایی :4245
ارائه شده توسط : دکتر سید سعید حسینی اصل
ارائه شده در تاریخ :21 مرداد 1392 10:54
آخرین تغییر :07 مهر 1393 06:38

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