Identification of low penetrance alleles for lung cancer: The GEnetic Lung CAncer Predisposition Study (GELCAPS)

Identification of low penetrance alleles for lung cancer: The GEnetic Lung CAncer Predisposition Study (GELCAPS)
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DOI:
10.1186/1471-2407-8-244
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发表时间:
2008-08-20
期刊:
影响因子:
3.8
通讯作者:
Houlston, Richard
Houlston, Richard
中科院分区:
医学2区
文献类型:
--
作者:
Eisen, Tim;Matakidou, Athena;Houlston, Richard

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背景:肺癌的部分遗传风险可能包括常见的低风险等位基因。这类敏感性的识别取决于基于关联的分析。我们建立了遗传性肺癌易感性研究(GELCAPS),从大量病例和一系列配偶/伴侣对照中收集DNA和临床病理学数据,从而为识别低风险等位基因提供关键资源。方法:GELCAPS是英国国家癌症研究网络(NCRN)采用的首批遗传流行病学试验之一在100多个专门从事肺癌管理的肿瘤科的参与下,将其纳入其产品组合。结果:迄今为止,通过GELCAPS收集了来自5,000多个独立肺癌病例和2,000个对照的样本。GELCAPS代表了世界上最大的数据集之一,能够提供有关低等位基因对肺癌发展的贡献以及遗传变异对结果的影响的信息。此外,我们在开发GELCAPS方面的经验有助于说明如何使用NCRN在英国快速生成用于遗传分析的大型DNA生物库。
Background: Part of the inherited risk to lung cancer is likely to include common, low risk alleles. The identification of this class of susceptibility is contingent on association-based analyses. We established GEnetic Lung CAncer Predisposition Study (GELCAPS) to collect DNA and clinicopathological data from a large series of cases and a series of spouse/partner controls, thereby generating a key resource for the identification of low risk alleles.Methods: GELCAPS was one of the first genetic epidemiological trials in the UK to be adopted by the National Cancer Research Network (NCRN) onto its portfolio with the participation of over 100 oncology departments specialising in the management of lung cancer.Results: Samples from over 5,000 independent lung cancer cases and 2,000 controls have so far been assembled through GELCAPS.Conclusion: GELCAPS represents one of the largest datasets of its type in the world capable of informing on the contribution of low penetrance alleles to the development of lung cancer and the influence of genetic variation on outcome. In addition our experience in developing the GELCAPS serves to illustrate how large DNA biobanks for genetic analyses can be rapidly generated within the UK using the NCRN.