Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St Louis, Missouri.
Cancer Prevention, Control, and Population Health Program, Department of Medicine, Augusta University, Augusta, Georgia.
JAMA Netw Open. 2022 Feb 1;5(2):e2148983. doi: 10.1001/jamanetworkopen.2021.48983.
Family history of breast cancer (FHBC) and mammographic breast density are independent risk factors for breast cancer, but the association of FHBC and mammographic breast density in premenopausal women is not well understood.
To investigate the association of FHBC and mammographic breast density in premenopausal women using both quantitative and qualitative measurements.
DESIGN, SETTING, AND PARTICIPANTS: This single-center cohort study examined 2 retrospective cohorts: a discovery set of 375 premenopausal women and a validation set of 14 040 premenopausal women. Data from women in the discovery set was collected between December 2015 and October 2016, whereas data from women in the validation set was collected between June 2010 and December 2015. Data analysis was performed between June 2018 and June 2020.
Family history of breast cancer (FHBC).
The primary outcomes were mammographic breast density measured quantitatively as volumetric percent density using Volpara (discovery set) and qualitatively using BI-RADS (Breast Imaging Reporting and Data System) breast density (validation set). Multivariable regressions were performed using a log-transformed normal distribution for the discovery set and a logistic distribution for the validation set.
Of 14 415 premenopausal women included in the study, the discovery set and validation set had similar characteristics (discovery set with FHBC: mean [SD] age, 47.1 [5.6] years; 15 [17.2%] were Black or African American women and 64 [73.6%] were non-Hispanic White women; discovery set with no FHBC: mean [SD] age, 47.7 [4.5] years; 87 [31.6%] were Black or African American women and 178 [64.7%] were non-Hispanic White women; validation set with FHBC: mean [SD] age, 46.8 [7.3] years; 720 [33.4%] were Black or African American women and 1378 [64.0%] were non-Hispanic White women]; validation set with no FHBC: mean [SD] age, 47.5 [6.1] years; 4572 [38.5%] were Black or African American women and 6632 [55.8%] were non-Hispanic White women]). In the discovery set, participants who had FHBC were more likely to have a higher mean volumetric percent density compared with participants with no FHBC (11.1% vs 9.0%). In the multivariable-adjusted model, volumetric percent density was 25% higher (odds ratio [OR], 1.25 ;95% CI, 1.12-1.41) in women with FHBC compared with women without FHBC; and 24% higher (OR, 1.24; 95% CI, 1.10-1.40) in women who had 1 affected relative, but not significantly higher in women who had at least 2 affected relatives (OR, 1.40; 95% CI, 0.95-2.07) compared with women with no relatives affected. In the validation set, women with a positive FHBC were more likely to have dense breasts (BI-RADS 3-4) compared with women with no FHBC (BI-RADS 3: 41.1% vs 38.8%; BI-RADS 4: 10.5% vs 7.7%). In the multivariable-adjusted model, the odds of having dense breasts (BI-RADS 3-4) were 30% higher (OR, 1.30; 95% CI, 1.17-1.45) in women with FHBC compared with women without FHBC; and 29% higher (OR, 1.29; 95% CI, 1.14-1.45) in women who had 1 affected relative, but not significantly higher in women who had at least 2 affected relatives (OR, 1.38; 95% CI, 0.85-2.23) compared with women with no relatives affected.
In this cohort study, having an FHBC was positively associated with mammographic breast density in premenopausal women. Our findings highlight the heritable component of mammographic breast density and underscore the need to begin annual screening early in premenopausal women with a family history of breast cancer.
重要性：乳腺癌家族史（FHBC）和乳房 X 线照相术乳房密度是乳腺癌的独立危险因素，但在绝经前妇女中 FHBC 和乳房 X 线照相术乳房密度之间的关联尚不清楚。
目的：使用定量和定性测量方法研究绝经前妇女中 FHBC 和乳房 X 线照相术乳房密度之间的关联。
设计、设置和参与者：这项单中心队列研究检查了两个回顾性队列：一个是由 375 名绝经前妇女组成的发现队列，另一个是由 14040 名绝经前妇女组成的验证队列。发现队列中女性的数据收集时间为 2015 年 12 月至 2016 年 10 月，而验证队列中女性的数据收集时间为 2010 年 6 月至 2015 年 12 月。数据分析于 2018 年 6 月至 2020 年 6 月进行。
暴露情况：乳腺癌家族史（FHBC）。
主要结果和措施：主要结果是使用 Volpara（发现队列）定量测量和使用 BI-RADS（乳房成像报告和数据系统）乳房密度（验证队列）定性测量的乳房 X 线照相术乳房密度。使用发现队列的对数正态分布和验证队列的逻辑分布进行多变量回归。
结果：在纳入的 14415 名绝经前妇女中，发现队列和验证队列具有相似的特征（发现队列中 FHBC：平均[SD]年龄为 47.1[5.6]岁；15[17.2%]名女性为黑人和非裔美国人，64[73.6%]名女性为非西班牙裔白人；发现队列中无 FHBC：平均[SD]年龄为 47.7[4.5]岁；87[31.6%]名女性为黑人和非裔美国人，178[64.7%]名女性为非西班牙裔白人；验证队列中 FHBC：平均[SD]年龄为 46.8[7.3]岁；720[33.4%]名女性为黑人和非裔美国人，1378[64.0%]名女性为非西班牙裔白人；验证队列中无 FHBC：平均[SD]年龄为 47.5[6.1]岁；4572[38.5%]名女性为黑人和非裔美国人，6632[55.8%]名女性为非西班牙裔白人）。在发现队列中，与没有 FHBC 的女性相比，有 FHBC 的女性更有可能具有更高的平均体积百分比密度（11.1%比 9.0%）。在多变量调整模型中，FHBC 女性的体积百分比密度比没有 FHBC 的女性高 25%（优势比[OR]，1.25；95%CI，1.12-1.41）；有 1 个受影响亲属的女性高 24%（OR，1.24；95%CI，1.10-1.40），但至少有 2 个受影响亲属的女性没有显著升高（OR，1.40；95%CI，0.95-2.07）。在验证队列中，与没有 FHBC 的女性相比，FHBC 阳性的女性更有可能有致密的乳房（BI-RADS 3-4）（BI-RADS 3：41.1%比 38.8%；BI-RADS 4：10.5%比 7.7%）。在多变量调整模型中，与没有 FHBC 的女性相比，有 FHBC 的女性具有致密乳房（BI-RADS 3-4）的几率高 30%（OR，1.30；95%CI，1.17-1.45）；有 1 个受影响亲属的女性高 29%（OR，1.29；95%CI，1.14-1.45），但至少有 2 个受影响亲属的女性没有显著升高（OR，1.38；95%CI，0.85-2.23）。
结论和相关性：在这项队列研究中，有 FHBC 与绝经前妇女的乳房 X 线照相术乳房密度呈正相关。我们的研究结果突出了乳房 X 线照相术乳房密度的遗传性，并强调了需要在有乳腺癌家族史的绝经前妇女中开始进行年度筛查。
