全国范围内乳腺癌和卵巢癌患者种系 BRCA1/2 检测的趋势和决定因素。
Nationwide Trends and Determinants of Germline BRCA1/2 Testing in Patients With Breast and Ovarian Cancer.
机构信息
Division of Hematology/Oncology, Department of Medicine, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts.
Department of Biostatistics, Epidemiology, and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
出版信息
J Natl Compr Canc Netw. 2023 Apr;21(4):351-358.e4. doi: 10.6004/jnccn.2022.7257.
BACKGROUND
Germline genetic testing (GT) for BRCA1/2 is instrumental in identifying patients with breast and ovarian cancers who are eligible for PARP inhibitors (PARPi). Little is known about recent trends and determinants of GT since PARPi were approved for these patients.
PATIENTS AND METHODS
We performed a retrospective cohort study of patients in a nationwide electronic health record (EHR)-derived oncology-specific database with the following GT eligibility criteria: breast cancer diagnosed at age ≤45 years, triple-negative breast cancer diagnosed at age ≤60 years, male breast cancer, or ovarian cancer. GT within 1 year of diagnosis was assessed and stratified by tumor type. Multivariable log-binomial regressions estimated adjusted relative risks (RRs) of GT by patient and tumor characteristics.
RESULTS
Among 2,982 eligible patients with breast cancer, 56.4% underwent GT between January 2011 and March 2020, with a significant increase in GT over time (RR, 1.08; 95% CI, 1.05-1.11, for each year), independent of when PARPi were approved for BRCA1/2-mutated metastatic breast cancer in January 2018. In multivariable analyses, older age (RR, 0.93; 95% CI, 0.90-0.96, for every 5 years) and Medicare coverage (RR, 0.69; 95% CI, 0.49-0.96 vs commercial insurance) were associated with less GT. Among 5,563 eligible patients with ovarian cancer, 35.4% underwent GT between January 2011 and March 2020, with a significant increase in GT over time (RR, 1.11; 95% CI, 1.07-1.14, for each year) that accelerated after approval of PARPi for BRCA1/2-mutated, chemotherapy-refractory ovarian cancer in December 2014 (RR, 1.42; 95% CI, 1.19-1.70). Older age (RR, 0.95; 95% CI, 0.93-0.97, for every 5 years) and Black or African American race (RR, 0.80; 95% CI, 0.65-0.98 vs White race) were associated with less GT.
CONCLUSIONS
GT remains underutilized nationwide among patients with breast and ovarian cancers. Although GT has increased over time, significant disparities by age, race, and insurance status persist. Additional work is needed to design, implement, and evaluate strategies to ensure that all eligible patients receive GT.
背景
BRCA1/2 种系基因检测（GT）对于识别有资格接受 PARP 抑制剂（PARPi）治疗的乳腺癌和卵巢癌患者至关重要。自 PARPi 获批用于这些患者以来，关于 GT 的最新趋势和决定因素知之甚少。
患者和方法
我们对一个全国性电子病历（EHR）衍生的肿瘤特异性数据库中的患者进行了回顾性队列研究，这些患者符合以下 GT 入选标准：≤ 45 岁诊断的乳腺癌、≤ 60 岁诊断的三阴性乳腺癌、男性乳腺癌或卵巢癌。评估了诊断后 1 年内的 GT，并按肿瘤类型进行分层。多变量二项式回归估计了患者和肿瘤特征对 GT 的调整后相对风险（RR）。
结果
在 2982 名符合条件的乳腺癌患者中，56.4%的患者在 2011 年 1 月至 2020 年 3 月期间进行了 GT，GT 随时间显著增加（RR，1.08；95%CI，1.05-1.11，每年增加 1%），独立于 2018 年 1 月 PARPi 获批用于 BRCA1/2 突变转移性乳腺癌）。多变量分析显示，年龄较大（RR，0.93；95%CI，0.90-0.96，每增加 5 岁）和医疗保险覆盖（RR，0.69；95%CI，0.49-0.96 vs 商业保险）与 GT 减少相关。在 5563 名符合条件的卵巢癌患者中，35.4%的患者在 2011 年 1 月至 2020 年 3 月期间进行了 GT，GT 随时间显著增加（RR，1.11；95%CI，1.07-1.14，每年增加 1%），在 2014 年 12 月 PARPi 获批用于 BRCA1/2 突变、化疗耐药性卵巢癌后加速（RR，1.42；95%CI，1.19-1.70）。年龄较大（RR，0.95；95%CI，0.93-0.97，每增加 5 岁）和黑人或非裔美国人种族（RR，0.80；95%CI，0.65-0.98 vs 白人种族）与 GT 减少相关。
结论
在乳腺癌和卵巢癌患者中，全国范围内 GT 的使用率仍然较低。尽管 GT 随时间增加，但年龄、种族和保险状况方面仍存在显著差异。需要进一步努力设计、实施和评估确保所有符合条件的患者都能接受 GT 的策略。
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