阿什肯纳兹和非阿什肯纳兹乳腺癌男性中始祖BRCA1和BRCA2突变的类似患病率：来自1976 - 1999年以色列261例病例的证据
Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999.
作者信息
Chodick Gabriel, Struewing Jeffery P, Ron Elaine, Rutter Joni L, Iscovich Jose
机构信息
Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, Bethesda, MD 20892-7238, USA.
出版信息
Eur J Med Genet. 2008 Mar-Apr;51(2):141-7. doi: 10.1016/j.ejmg.2007.11.001. Epub 2007 Nov 22.
Abstract
To evaluate the potential contribution of mutations in the BRCA1 and BRCA2 genes to male breast cancer (MBC), we expanded a previous study to screen a total of 261 Israeli men diagnosed with breast carcinoma. A total of 21 BRCA2 6174delT and 8 BRCA1 185delAG mutations were found. Similar frequencies of BRCA1 and BRCA2 mutation carriers were found among Ashkenazi (12.8%) and non-Ashkenazi Jews (9.1%). The combined prevalence of BRCA1/BRCA2 founder mutations among Ashkenazi Jewish men is slightly higher than for women, due to a higher frequency of BRCA2 mutations.
摘要
为评估BRCA1和BRCA2基因突变对男性乳腺癌（MBC）的潜在影响，我们扩展了之前的一项研究，对总共261名被诊断患有乳腺癌的以色列男性进行了筛查。共发现21例BRCA2 6174delT突变和8例BRCA1 185delAG突变。在阿什肯纳兹犹太人（12.8%）和非阿什肯纳兹犹太人（9.1%）中发现BRCA1和BRCA2突变携带者的频率相似。由于BRCA2突变频率较高，阿什肯纳兹犹太男性中BRCA1/BRCA2始祖突变的综合患病率略高于女性。
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