与低外显率TP53变异相关的癌症：来自p.R337H的见解。

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

{"title":"与低外显率TP53变异相关的癌症：来自p.R337H的见解。","authors":"Enzo Lalli, Gerard P Zambetti, Raul C Ribeiro, Bonald C Figueiredo","doi":"10.1016/j.trecan.2025.04.003","DOIUrl":null,"url":null,"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.","PeriodicalId":23336,"journal":{"name":"Trends in cancer","volume":" ","pages":"499-502"},"PeriodicalIF":17.5000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cancer associated to low-penetrance TP53 variants: insights from p.R337H.\",\"authors\":\"Enzo Lalli, Gerard P Zambetti, Raul C Ribeiro, Bonald C Figueiredo\",\"doi\":\"10.1016/j.trecan.2025.04.003\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":23336,\"journal\":{\"name\":\"Trends in cancer\",\"volume\":\" \",\"pages\":\"499-502\"},\"PeriodicalIF\":17.5000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Trends in cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.trecan.2025.04.003\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/4/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Trends in cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.trecan.2025.04.003","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/22 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

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。

查看原文本刊更多论文

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

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.