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首页> 外文期刊>Biopreservation and biobanking >Nonmalignant Formalin-Fixed Paraffin-Embedded Tissues as a Source to Study Germline Variants and Cancer Predisposition: A Systematic Review
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Nonmalignant Formalin-Fixed Paraffin-Embedded Tissues as a Source to Study Germline Variants and Cancer Predisposition: A Systematic Review

机译：非甲醛固定的石蜡包埋组织作为研究种系变体和癌症倾向的源：系统审查

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Background:Archived formalin-fixed paraffin-embedded (FFPE) specimens from nonmalignant tissues derived from cancer patients are a vast and potentially valuable resource for high-quality genotyping analyses and could have a role in establishing inherited cancer risk. Methods:We systematically searched PubMed, Ovid MEDLINE, and Scopus databases for all articles that compared genotyping performance of DNA from nonmalignant FFPE tissue with blood DNA derived from cancer patients irrespective of tumor type. Two independent researchers screened the retrieved studies, removed duplicates, excluded irrelevant studies, and extracted genotyping data from the eligible studies. These studies included, but were not limited to, genotyping technique, reported call rate, and concordance. Results:Thirteen studies were reviewed, in which DNA from nonmalignant FFPE tissues derived from cancer patients was successfully purified and genotyped. All these studies used different approaches for genotyping of DNA from nonmalignant FFPE tissues to amplify single nucleotide polymorphisms (SNPs) and to estimate of loss of heterozygosity. The concordance between genotypes from nonmalignant FFPE tissues and blood derived from cancer patients was observed to be high, whereas the call rate of the tested SNPs was not reported in all included studies. Conclusion:This review illustrates that DNA from nonmalignant FFPE tissues derived from cancer patients can serve as an alternative and reliable source for assessment of germline DNA for various purposes, including assessment of cancer predisposition.
机译：背景：来自癌症患者的非正射组织的存档福尔马林固定石蜡嵌入式（FFPE）标本是一种巨大且潜在的有价值的资源，可用于高质量的基因分析分析，并且可以在建立遗传癌症风险方面发挥作用。方法：我们系统地搜索了PubMed，Ovid Medline和Scopus数据库，了解所有文章，这些文章使DNA与来自癌症患者的血液DNA与血液DNA进行了比较了DNA的基因分型性能，而不管肿瘤类型如何。两个独立的研究人员筛选了检索到的研究，除去重复，排除无关的研究，并从合格的研究中提取了基因分型数据。这些研究包括，但不限于基因分型技术，报告的呼叫率和一致性。结果：综述了13项研究，其中来自癌症患者的非开始FFPE组织的DNA成功纯化和基因分型。所有这些研究使用来自非开始的FFPE组织的DNA的基因分型不同方法，以扩增单核苷酸多态性（SNP）并估计杂合性的损失。观察到非对症FFPE组织和患有癌症患者的血液之间的基因型之间的一致性高，而在所有包括的研究中未报告测试的SNP的呼叫率。结论：本综述表明，来自癌症患者的非真实FFPE组织的DNA可以作为各种目的评估种系DNA的替代和可靠来源，包括癌症易感性评估。

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