Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta-analysis.
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DOI：
10.1111/cge.13966
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发表时间：
2021-08
影响因子：
3.5
通讯作者：
Lopez-Olivo MA
中科院分区：
文献类型：
--
作者：
Makhnoon S;Bednar EM;Krause KJ;Peterson SK;Lopez-Olivo MA
在遗传性癌症基因检测中，不适当地使用不确定意义的变体（VUS）仍然是一个令人担忧的问题。本研究的目的是评估致病性和可能致病性（P/LP）、VUS和良性和可能良性（B/LB）基因检测结果与癌症相关手术和筛查管理之间的相关性。对Medline、Embase、EBSCO CINAHL Plus和PsycINFO进行了系统检索，检索时间为1946年至2020年8月26日。符合条件的研究包括具有癌症基因检测结果和手术或筛查管理结果的个体。我们回顾了885篇摘要，纳入了22项报告相关手术和筛查结局的研究。荟萃分析显示，P/LP患者的治疗性乳房切除术联合对侧预防性乳房切除术的手术率显著高于VUS患者（OR = 7.35，95%CI，4.14-13.64）、预防性乳房切除术（OR = 3.05，95%CI，1.5-6.19）、卵巢切除术（OR = 6.46，95%CI，3.64-11.44）。P/LP和VUS患者之间的治疗性乳房切除术或乳房保留或肿块切除率无显著差异，VUS和B/LB患者之间的任何结局也无显著差异。评估筛查结果的研究有限，结果相互矛盾。综合分析并不表明有相当数量的VUS结果的个体接受了不适当的临床管理。
Improper medical use of variant of uncertain significance (VUS) remains a concern in hereditary cancer genetic testing. The goal of this study was to assess the association between pathogenic and likely pathogenic (P/LP), VUS, and benign and likely benign (B/LB) genetic test results and cancer-related surgical and screening management. Systematic searches of Medline, Embase, EBSCO CINAHL Plus, and PsycINFO were conducted from 1946 to August 26, 2020. Eligible studies included individuals with cancer genetic test result and surgical or screening management outcomes. We reviewed 885 abstracts and 22 studies that reported relevant surgical and screening outcomes were included. Meta-analysis revealed significantly higher surgical rates among individuals with P/LP than among those with VUS for therapeutic mastectomy with contralateral prophylactic mastectomy (OR = 7.35, 95% CI, 4.14–13.64), prophylactic mastectomy (OR = 3.05, 95% CI, 1.5–6.19), and oophorectomy (OR = 6.46, 95% CI, 3.64–11.44). There were no significant differences in therapeutic mastectomy, or breast conservation or lumpectomy rates between individuals with P/LP and VUS, or in any outcomes between patients with VUS and B/LB. Studies evaluating screening outcomes were limited, and results were conflicting. Comprehensive analysis do not indicate that a significant number of individuals with VUS results undergo inappropriate clinical management.
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