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国家学会指南和美国国立综合癌症网络(NCCN)指南对乳腺癌患者基因检测使用情况的影响。

Impact of National Society Guidelines and National Comprehensive Cancer Network (NCCN) Guidelines on Genetic Testing Use Among Patients with Breast Cancer.

作者信息

Tapiavala Shaili, Liu Ying, Roy Shireen, Hensing Whitney, Ademuyiwa Foluso O, Cyr Amy E

机构信息

Division of Oncology, Washington University in St. Louis, St. Louis, MO, USA.

Department of Surgery, Division of Public Health Sciences, Washington University School of Medicine, St. Louis, MO, USA.

出版信息

Ann Surg Oncol. 2025 Jul 14. doi: 10.1245/s10434-025-17448-w.

Abstract

BACKGROUND

Identifying pathogenic germline mutations in patients with breast cancer (BC) is critical with significant impact on prevention and management. The American Society of Breast Surgeons (ASBrS) released guidelines in February 2019 recommending genetic testing (GT) for all patients with a personal history of BC. The objective of this study was to evaluate the impact of ASBrS guidelines on GT utilization for patients with BC.

PATIENTS AND METHODS

At the Siteman Cancer Canter, 4421 patients were diagnosed and/or treated between 1 January 2017 and 31 December 2020. Data including race/ethnicity, BC subtype, insurance, and family history of BC was independently collected by authors. Myriad Genetics database was utilized to identify patients with BC with GT. Multivariate logistic regression and difference-in-difference analyses were performed to compare GT rates pre- and post-guideline.

RESULTS

GT rates significantly improved for all patients with BC post-guideline (50.9% versus 59.5%, p < 0.0001). There was no significant difference in GT rate changes between non-Hispanic white (52.0% versus 59.8%) and non-Hispanic Black (46.9% versus 56.6%) patients (p = 0.07). Patients more likely to undergo GT included those with a family history of BC [odds ratio (OR) 2.89, p < 0.0001], triple negative breast cancer (TNBC) (OR 2.64, p < 0.0001), and invasive BC (OR 1.62, p < 0.0001). Patients less likely to receive genetic testing included those older than 50 years (OR 0.11, p < 0.0001), and those with public insurances (OR 0.42, p < 0.0001).

CONCLUSIONS

ASBrS guidelines significantly improved GT utilization among patients with BC, though GT rates still remained lower than guideline recommendations. Multidisciplinary efforts to implement ASBrS guidelines are critical for improved germline testing in patients with BC.

摘要

背景

识别乳腺癌(BC)患者的致病性种系突变至关重要,对预防和治疗有重大影响。美国乳腺外科医师协会(ASBrS)于2019年2月发布指南,建议对所有有BC个人病史的患者进行基因检测(GT)。本研究的目的是评估ASBrS指南对BC患者GT应用的影响。

患者与方法

在西曼癌症中心,2017年1月1日至2020年12月31日期间有4421例患者被诊断和/或接受治疗。作者独立收集了包括种族/民族、BC亚型、保险和BC家族史等数据。利用Myriad Genetics数据库识别接受GT的BC患者。进行多因素逻辑回归和差异分析以比较指南发布前后的GT率。

结果

指南发布后,所有BC患者的GT率显著提高(50.9%对59.5%,p<0.0001)。非西班牙裔白人患者(52.0%对59.8%)和非西班牙裔黑人患者(46.9%对56.6%)的GT率变化无显著差异(p = 0.07)。更有可能接受GT的患者包括有BC家族史者[比值比(OR)2.89,p<0.0001]、三阴性乳腺癌(TNBC)患者(OR 2.64,p<0.0001)和浸润性BC患者(OR 1.62,p<0.0001)。不太可能接受基因检测的患者包括年龄大于50岁者(OR 0.11,p<0.0001)和有公共保险者(OR 0.42,p<0.0001)。

结论

ASBrS指南显著提高了BC患者的GT应用率,尽管GT率仍低于指南推荐水平。多学科努力实施ASBrS指南对于改善BC患者的种系检测至关重要。

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