主页 文献库文献详情
PMID: 25256238 已发表 · ppublish 英语

Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

Clinical genetics ·第 88 卷 ·第 4 期 ·2016-06-27

Abugattas J, Llacuachaqui M, Allende Y Sullcahuaman, Velásquez A Arias, Velarde R, Cotrina J, Garcés M, León M, Calderón G, de la Cruz M, Mora P, Royer R, Herzog J, Weitzel J N, Narod S A

摘要

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2 in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented 7 of 11 mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.

关键词
BRCA1 BRCA2 Peru breast cancer hereditary
文献信息
期刊
Clinical genetics
期刊简称
Clin Genet
发表日期
2016-06-27
收录日期
2015-09-17
更新日期
2016-10-19
语言
英语
国家/地区
Denmark
NLM ID
0253664
分析服务
分析服务

联系地址

山东省济南市章丘区文博路2号

齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号

大学科技园北区F座4单元2楼

电话: 0531-88819269

微信公众号

关注微信订阅号,实时查看信息,关注医学生物学动态。


商务邮箱

E-mail: product@genelibs.com