{"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":"<p><p>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.</p>","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\":\"<p><p>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.</p>\",\"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}
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.
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.