دورية أكاديمية
Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families
| العنوان: | Molecular analysis of the eighteen most frequent mutations in the BRCA 1 gene in 63 Chilean breast cancer families |
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| المؤلفون: | Jara, Lilian, Ampuero Llanos, Sandra, Santibáñez, Eudocia, Seccia, Lorena, Rodríguez, Juan, Bustamante, Mario, Lay-Son, Guillermo, Ojeda, José Manuel, Reyes, José Miguel, Blanco, Rafael |
| المصدر: | Biological Research |
| بيانات النشر: | Society of Biology of Chile |
| سنة النشر: | 2004 |
| المجموعة: | Universidad de Chile: Repositorio académico |
| مصطلحات موضوعية: | 4185delCAAG, BRCA1 gene, Chilean population, Frequent mutations, New mutation, Polymorphism |
| الوصف: | BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17% of the families and the others were present only in |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 07169760 |
| العلاقة: | Biological Research, Volumen 37, Issue 3, 2018, Pages 469-481; https://repositorio.uchile.cl/handle/2250/164964Test |
| DOI: | 10.4067/S0716-97602004000300011 |
| الإتاحة: | https://doi.org/10.4067/S0716-97602004000300011Test https://repositorio.uchile.cl/handle/2250/164964Test |
| حقوق: | Attribution-NonCommercial-NoDerivs 3.0 Chile ; http://creativecommons.org/licenses/by-nc-nd/3.0/clTest/ |
| رقم الانضمام: | edsbas.664DCB07 |
| قاعدة البيانات: | BASE |
| تدمد: | 07169760 |
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| DOI: | 10.4067/S0716-97602004000300011 |