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
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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。
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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.

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来源期刊
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.
期刊最新文献
Arterial and Venous Doppler in Evaluation of the "At-risk" Fetus. Current Science and Practice of Surgical and Nonsurgical Opportunities for Ovarian Cancer Prevention. Differential Receipt of Genetic Services Among Patients With Gynecologic Cancer and Their Relatives: A Review of Challenges to Health Equity. Foreword: Genetics and Gynecologic Cancer: Opportunity and Nuance. Genetic Implications for Cancer Management: The Changing Landscape of Poly (ADP-ribose) Polymerase Inhibitor Indications in the Treatment of Ovarian Cancer.
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