Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru
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DOI：
10.1111/cge.12505
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发表时间：
2015-10-01
影响因子：
3.5
通讯作者：
Narod, S. A.
中科院分区：
文献类型：
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作者：
Abugattas, J.;Llacuachaqui, M.;Narod, S. A.
秘鲁乳腺癌患者中BRCA1和BRCA2突变的流行率尚未得到研究。我们从秘鲁利马的一家国家癌症医院招募了266名患有乳腺癌的女性，没有根据年龄或家族病史进行选择。用114个反复出现的西班牙裔BRCA突变(HISPANEL)进行DNA筛查。在266例患者中，发现13个有害突变(BRCA1基因突变11个，BRCA2基因突变2个)，占总数的5%。在突变阳性病例中，乳腺癌的平均年龄为44岁。BRCA1185delAG代表BRCA1的11个突变中的7个。在BRCA1中检测到的其他突变包括：两个2080delA，一个943ins10和一个3878delTA。在2例患者中发现BRCA2 3036del4突变。鉴于HISPANEL检测的成本相对较低，人们应该考虑向所有患有乳腺癌或卵巢癌的秘鲁女性提供这种检测。
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.