妇科肿瘤患者中意义不明的基因变异。

IF 1.4 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Clinical obstetrics and gynecology Pub Date : 2024-12-01 Epub Date: 2024-09-26 DOI:10.1097/GRF.0000000000000898

Julia Cooper, Leigha Senter

{"title":"妇科肿瘤患者中意义不明的基因变异。","authors":"Julia Cooper, Leigha Senter","doi":"10.1097/GRF.0000000000000898","DOIUrl":null,"url":null,"abstract":"Germline and somatic genetic/genomic testing are commonly ordered for gynecologic oncology patients. Genetic tests can inform disease etiology, prognosis, treatment decisions, and risk to the patient's relatives. Variants of uncertain significance (VUSs) are frequently encountered and have a more nuanced interpretation than straightforward pathogenic or benign variant classifications. Clinical care providers should be familiar with why and how VUSs are reported, their clinical significance, variant reclassification practices, and patient perceptions of VUSs.","PeriodicalId":10415,"journal":{"name":"Clinical obstetrics and gynecology","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Germline Variants of Uncertain Significance in Gynecologic Oncology Patients.\",\"authors\":\"Julia Cooper, Leigha Senter\",\"doi\":\"10.1097/GRF.0000000000000898\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Germline and somatic genetic/genomic testing are commonly ordered for gynecologic oncology patients. Genetic tests can inform disease etiology, prognosis, treatment decisions, and risk to the patient's relatives. Variants of uncertain significance (VUSs) are frequently encountered and have a more nuanced interpretation than straightforward pathogenic or benign variant classifications. Clinical care providers should be familiar with why and how VUSs are reported, their clinical significance, variant reclassification practices, and patient perceptions of VUSs.\",\"PeriodicalId\":10415,\"journal\":{\"name\":\"Clinical obstetrics and gynecology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical obstetrics and gynecology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/GRF.0000000000000898\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical obstetrics and gynecology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/GRF.0000000000000898","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/26 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

妇科肿瘤患者通常需要进行种系和体细胞基因/基因组检测。基因检测可为疾病病因学、预后、治疗决策以及患者亲属面临的风险提供信息。意义不确定的变异（VUS）经常出现，与直接的致病或良性变异分类相比，其解释更为细致。临床医疗服务提供者应熟悉报告 VUS 的原因和方式、其临床意义、变异体再分类实践以及患者对 VUS 的看法。

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

Germline Variants of Uncertain Significance in Gynecologic Oncology Patients.

Germline and somatic genetic/genomic testing are commonly ordered for gynecologic oncology patients. Genetic tests can inform disease etiology, prognosis, treatment decisions, and risk to the patient's relatives. Variants of uncertain significance (VUSs) are frequently encountered and have a more nuanced interpretation than straightforward pathogenic or benign variant classifications. Clinical care providers should be familiar with why and how VUSs are reported, their clinical significance, variant reclassification practices, and patient perceptions of VUSs.

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

Clinical obstetrics and gynecology 医学-妇产科学

CiteScore

2.70

自引率

0.00%

发文量

186

审稿时长

3 months

期刊介绍： Each issue of Clinical Obstetrics and Gynecology is a complete symposium on one or two timely topics of interest in obstetrics and gynecology. For each quarterly issue, two prominent guest editors solicit contributions on key clinical topics of interest to practicing physicians. Procedures, current clinical problems, medical and surgical treatments, and effective diagnostic aids are all carefully reviewed in original articles. The result is an instructive resource that dispenses trustworthy clinical guidance that enhances your understanding of key areas of your practice.