The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer
The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer
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DOI：
10.1089/109065700750065171
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发表时间：
2000-12-01
期刊：
影响因子：
--
通讯作者：
Friedman, E
中科院分区：
文献类型：
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作者：
Kreiss, Y;Barak, F;Friedman, E
为了深入了解非德系犹太人患乳腺癌的遗传易感性的分子机制，我们对54名患有乳腺癌的摩洛哥犹太妇女进行了BRCA1、BRCA2和ATM的主要犹太突变的基因分型，发现1名患者(2%)具有185delAG BRCA1突变，没有人携带6174delT BRCA2突变，2/54(4%)是ATM突变的杂合子。这些比率与一般非德系克肯纳齐人的比率并无显著差异。这些初步数据可能表明，在摩洛哥犹太人中，BRCA1、BRCA2和ATM基因的主要犹太突变对乳腺癌的易感性和风险几乎没有贡献。
To gain insight into the molecular mechanisms underlying the inherited predisposition to breast cancer in non-Ashkenazi Jews, we genotyped 54 Jewish Moroccan women with breast cancer, unselected for family history of cancer, for the predominant Jewish mutations in BRCA1, BRCA2, and ATM, One patient (2%) was found to have the 185delAG BRCA1 mutation, none was a carrier of the 6174delT BRCA2 mutation, and 2/54 (4%) were heterozygous for the ATM mutation. These rates were not significantly different from the rates in the general non-Ashkenazi population. These preliminary data may indicate that the predominant Jewish mutations in BRCA1, BRCA2, and ATM genes contribute little, if any, to breast cancer predisposition and risk among Moroccan Jews.