کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2116019 | 1084621 | 2006 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
تحقیقات سرطان
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain BRCA1–2 mutations in breast cancer: Identification of nine new variants of BRCA1–2 genes in a population from central Western Spain](/preview/png/2116019.png)
چکیده انگلیسی
We carried out a mutational analysis of BRCA1 and BRCA2 genes in 103 individuals from a population in Western Central Spain and we identified nine new variants: two truncating mutations in BRCA2 [2604C>A (Y792X), 8873del4], three missense mutations in BRCA2 [677A>G (H150R), 958G>A (D224N) and 3398A>G (K1057R], and four silent mutations, two in BRCA1 [1115T>G (R332R) and IVS24+36 C>G], and two in BRCA2 [2583T>A (I785I) and 7854G>A (T2542T)]. In two unrelated families of our population, we identified the BRCA1 1806C>T (Q563X) mutation, which is considered to be a Swedish founder mutation. BRCA1 1806C>T (Q563X) and BRCA2 3036del4 gene mutations were the most frequent in our series.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Letters - Volume 233, Issue 1, 20 February 2006, Pages 172–177
Journal: Cancer Letters - Volume 233, Issue 1, 20 February 2006, Pages 172–177
نویسندگان
Raquel Salazar, Juan Jesús Cruz-Hernandez, Enrique Sanchez-Valdivieso, César A. Rodriguez, Amalia Gomez-Bernal, Elviradel Barco, Emilio Fonseca, Teresa Portugal, Rogelio Gonzalez-Sarmiento,