کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
2109772 1083887 2016 3 صفحه PDF ندارد دانلود رایگان
عنوان انگلیسی مقاله
The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil
ترجمه فارسی عنوان
نرخ جهش ژنتیکی BRCA1 ، BRCA2، و TP53 راجعه در جمعیت عمومی و موارد سرطان تخمدان انتخاب نشده، در بلو هوریزونته، برزیل
کلمات کلیدی
غربالگری جمعیت؛ تکرار جهش BRCA؛ جهش بنیانگذار TP53؛ موارد سرطان تخمدان متوالی ؛ خانواده‌های در معرض خطر
Population screening; recurring BRCA mutations; TP53 founder mutation; consecutive ovarian cancer cases; high risk families
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی

In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Genetics - Volume 209, Issues 1–2, January–February 2016, Pages 50–52
نویسندگان
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