With the recent explosion in high-throughput genotyping technology, the amount and quality of SNP data have increased exponentially, facilitating the discovery of multiple uncommon SNPs in the human population. To provide unified and centralized resources for the scientific community, several repositories have been developed that aggregate numerous population studies and serve widely as references to filter natural variants in genetic analyses. However, they are largely biased toward European populations. TP53 gene is the most frequently mutated gene in human cancer, and pathogenic germline TP53 variants are associated with several cancer susceptibility disorders such as Li–Fraumeni syndrome. For these reasons, it is essential that TP53 SNPs are rigorously evaluated to avoid misclassifications that could impair patient management. The recent discovery of numerous benign SNPs within the coding region of TP53 can be attributed to surveillance of both global repositories and population-specific databases, with the latter enabling the recognition of additional TP53 SNPs in Japanese, African, and Indian populations. This review summarizes the body of evidence behind the identification of 21 TP53 variants and the information defining them as bona fide SNPs. This illustrates the need to include populations of different ethnic origins in genetic studies and the substantial benefits that can be derived from the information.

中文翻译：

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TP53 编码区中的良性 SNP：在致病变异中大海捞针

近年来，随着高通量基因分型技术的迅猛发展，SNP 数据的数量和质量呈指数级增长，促进了人群中多种不常见 SNP 的发现。为了向科学界提供统一和集中的资源，已经开发了多个存储库，这些存储库汇集了众多群体研究，并广泛用作遗传分析中过滤自然变异的参考。然而，他们很大程度上偏向欧洲人口。TP53 基因是人类癌症中最常见的突变基因，致病性种系 TP53 变异与多种癌症易感性疾病（例如 Li-Fraumeni 综合征）相关。由于这些原因，必须严格评估 TP53 SNP，以避免可能损害患者管理的错误分类。最近在 TP53 编码区内发现的许多良性 SNP 可归因于对全球存储库和特定人群数据库的监测，后者能够识别日本、非洲和印度人群中的其他 TP53 SNP。本综述总结了 21 种 TP53 变体鉴定背后的证据以及将它们定义为真正的 SNP 的信息。这说明需要将不同种族的人群纳入遗传研究，以及可以从这些信息中获得的实质性好处。和印度人口。本综述总结了 21 种 TP53 变体鉴定背后的证据以及将它们定义为真正的 SNP 的信息。这说明需要将不同种族的人群纳入遗传研究，以及可以从这些信息中获得的实质性好处。和印度人口。本综述总结了 21 种 TP53 变体鉴定背后的证据以及将它们定义为真正的 SNP 的信息。这说明需要将不同种族的人群纳入遗传研究，以及可以从这些信息中获得的实质性好处。