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有乳腺癌或卵巢癌病史女性的基因检测全国估计数。

National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.

作者信息

Childers Christopher P, Childers Kimberly K, Maggard-Gibbons Melinda, Macinko James

机构信息

Christopher P. Childers and Melinda Maggard-Gibbons, David Geffen School of Medicine at University of California-Los Angeles; Christopher P. Childers and James Macinko, Fielding School of Public Health at University of California-Los Angeles; and Kimberly K. Childers, Providence Health & Services Southern California, Los Angeles, California.

出版信息

J Clin Oncol. 2017 Dec 1;35(34):3800-3806. doi: 10.1200/JCO.2017.73.6314. Epub 2017 Aug 18.

Abstract

Purpose In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria. Methods We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC. Results Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing. Conclusion Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.

摘要

目的

在美国,有380万女性有乳腺癌(BC)或卵巢癌(OC)病史。高达15%的病例可归因于遗传性突变,若能识别这些突变,可为治疗和预防保健提供关键信息。尚不清楚有多少具有这些突变高风险的患者未接受检测,以及检测率如何因风险标准而异。方法:我们使用了来自全国健康访谈调查的三个癌症控制模块(2005年、2010年、2015年)的汇总横断面数据,这是一项全国性的面对面家庭访谈调查。符合条件的患者为成年女性,有BC和/或OC病史,根据诊断年龄和家族史符合2017年国家综合癌症网络的特定入选标准。结果包括报告有与医疗专业人员讨论基因检测、被建议进行基因检测或接受BC或OC基因检测病史的个体比例。结果:在47218名女性中,2.7%有BC病史,0.4%有OC病史。对于BC,35.6%符合一项或多项特定入选标准;其中,29.0%讨论过,20.2%被建议进行,15.3%接受了基因检测。个体入选标准的检测率从6.2%(有OC亲属)到18.2%(诊断年龄≤45岁)不等。对于OC,15.1%讨论过,13.1%被建议进行,10.5%接受了检测。仅使用四项BC入选标准以及所有OC患者,估计有120万至130万人未接受检测。结论:符合国家癌症综合网络特定标准的有BC或OC病史的个体中,接受基因检测的不到五分之一。大多数人从未与医疗服务提供者讨论过检测。需要开展大规模的全国性工作来满足这一未得到满足的需求。

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