Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer
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DOI：
10.1002/humu.10206
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发表时间：
2003-05-01
期刊：
影响因子：
3.9
通讯作者：
Concannon, P
中科院分区：
文献类型：
--
作者：
Bernstein, JL;Teraoka, S;Concannon, P
乳腺癌和其他癌症的流行病学研究越来越多地转向大型、多中心设计，以获得足够的能力来检测低等位基因易感性等位基因。这种研究的规模往往使得有必要将遗传筛查工作分散到多个地点。为了使这种多中心筛选设计有效，需要仔细标准化筛选方法和跨研究中心的质量控制。在这份报告中，我们说明了我们的方法来应对这些挑战的背景下，WECARE（妇女的环境，癌症和辐射流行病学）研究，多中心的人口，基于遗传流行病学研究的妇女与单侧和双侧乳腺癌。我们提供了变性高效液相色谱（DHPLC）筛选共济失调，毛细血管扩张基因（ATM）变异的最佳条件，并描述了在四个国际组织中进行的两项独立质量控制研究的结果。
Epidemiologic studies of breast and other cancers are increasingly turning toward large, multi, center designs in order to obtain adequate power to detect low-penetrance susceptibility alleles. The size of such studies often makes it necessary to distribute the genetic screening efforts to multiple sites. Careful standardization of screening methodology and quality control across sites is required for such multi-center screening designs to be efficient. In this report, we illustrate our approach to these challenges in the context of the WECARE (Women's Environment, Cancer and Radiation Epidemiology) Study, a multi-center population,based genetic epidemiologic study of women with unilateral and bilateral breast cancer. We provide optimized conditions for screening the ataxia, telangiectasia gene (ATM) for variation by denaturing high-performance liquid chromatography (DHPLC) and describe the results of two independent quality control studies at four international