Cancer associated to low-penetrance TP53 variants: insights from p.R337H.

IF 17.5 1区医学 Q1 ONCOLOGY

Trends in cancer Pub Date : 2025-06-01 Epub Date: 2025-04-22 DOI:10.1016/j.trecan.2025.04.003

Enzo Lalli, Gerard P Zambetti, Raul C Ribeiro, Bonald C Figueiredo

引用次数: 0

Abstract

The TP53 p.R337H variant, prevalent in Southern Brazil, is linked to variable cancer risk for pediatric and adult cancers. Unlike high-penetrance TP53 pathogenic variants, many carriers remain cancer free. Genetic modifiers influence risk, supporting a 'probabilistic' model. Ongoing studies aim to refine risk stratification, improve surveillance, and advance precision medicine for hereditary cancer.

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与低外显率TP53变异相关的癌症：来自p.R337H的见解。

在巴西南部流行的TP53 p.R337H变异与儿童和成人癌症的可变癌症风险有关。与高外显率的TP53致病变异不同，许多携带者仍然没有癌症。基因修饰因子影响风险，支持“概率”模型。正在进行的研究旨在完善风险分层，改善监测，推进遗传性癌症的精准医学。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Trends in cancer Medicine-Oncology

CiteScore

28.50

自引率

0.50%

发文量

138

期刊介绍： Trends in Cancer, a part of the Trends review journals, delivers concise and engaging expert commentary on key research topics and cutting-edge advances in cancer discovery and medicine. Trends in Cancer serves as a unique platform for multidisciplinary information, fostering discussion and education for scientists, clinicians, policy makers, and patients & advocates.Covering various aspects, it presents opportunities, challenges, and impacts of basic, translational, and clinical findings, industry R&D, technology, innovation, ethics, and cancer policy and funding in an authoritative yet reader-friendly format.