Department of Health Systems and Population Health, School of Public Health, University of Washington, Box 351621, Seattle, WA, 98195, USA.
Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, USA.
Breast Cancer Res Treat. 2023 Oct;201(3):461-470. doi: 10.1007/s10549-023-07007-w. Epub 2023 Jul 20.
Screening with mammography and breast magnetic resonance imaging (MRI) is an important risk management strategy for individuals with inherited pathogenic variants (PVs) in genes associated with increased breast cancer risk. We describe longitudinal screening adherence in individuals who underwent cancer genetic testing as part of usual care in a vertically integrated health system.
We determined the proportion time covered (PTC) by annual mammography and breast MRI for individuals with PVs in TP53, BRCA1, BRCA2, PALB2, NF1, CHEK2, and ATM. We determined time covered by biennial mammography beginning at age 50 years for individuals who received negative results, uncertain results, or with PVs in genes without specific breast cancer screening recommendations.
One hundred and forty individuals had PVs in TP53, BRCA1, BRCA2, PALB2, NF1, CHEK2, or ATM. Among these individuals, average PTC was 48% (range 0-99%) for annual screening mammography and 34% (range 0-100%) for annual breast MRI. Average PTC was highest for individuals with PVs in CHEK2 (N = 14) and lowest for individuals with PVs in TP53 (N = 3). Average PTC for biennial mammography (N = 1,027) was 49% (0-100%).
Longitudinal screening adherence in individuals with PVs in breast cancer associated genes, as measured by the proportion of time covered, is low; adherence to annual breast MRI falls below that of annual mammography. Additional research should examine screening behavior in individuals with PVs in breast cancer associated genes with a goal of developing interventions to improve adherence to recommended risk management.
对于携带与乳腺癌风险增加相关基因的致病性变异（PVs）的个体，通过乳腺 X 线摄影和乳腺磁共振成像（MRI）进行筛查是一种重要的风险管理策略。我们描述了在垂直整合的医疗体系中，作为常规护理的一部分，进行癌症基因检测的个体的纵向筛查依从性。
我们确定了携带 TP53、BRCA1、BRCA2、PALB2、NF1、CHEK2 和 ATM 基因中的 PVs 的个体接受年度乳腺 X 线摄影和乳腺 MRI 检查的比例时间覆盖（PTC）。我们确定了对于接受阴性、不确定或携带无特定乳腺癌筛查建议的基因中的 PVs 的个体，从 50 岁开始每两年进行一次乳腺 X 线摄影的时间覆盖。
140 名个体携带 TP53、BRCA1、BRCA2、PALB2、NF1、CHEK2 或 ATM 基因中的 PVs。在这些个体中，年度筛查性乳腺 X 线摄影的平均 PTC 为 48%（范围 0-99%），年度乳腺 MRI 的平均 PTC 为 34%（范围 0-100%）。携带 CHEK2 基因中的 PVs 的个体的平均 PTC 最高（N=14），携带 TP53 基因中的 PVs 的个体的平均 PTC 最低（N=3）。进行了每两年一次的乳腺 X 线摄影（N=1027）的个体的平均 PTC 为 49%（0-100%）。
通过比例时间覆盖来衡量，携带乳腺癌相关基因中的 PVs 的个体的纵向筛查依从性较低；年度乳腺 MRI 的依从性低于年度乳腺 X 线摄影。应开展更多研究，以调查携带乳腺癌相关基因中的 PVs 的个体的筛查行为，以期制定改善对推荐的风险管理措施的依从性的干预措施。
