Johansen Taber Katherine, Hughes Elisha, Gutin Alexander, DeHart W Brady, Becker Laura, Jasper Jeffery, Ratzel Sarah, Miller D Claire, Chawla Devika, Morin Pamela, Certa Julia, Kurian Allison W
Myriad Genetics, Inc, Salt Lake City, UT.
Optum, Eden Prairie, MN.
JCO Precis Oncol. 2025 May;9:e2400716. doi: 10.1200/PO-24-00716. Epub 2025 May 7.
Breast cancer (BC) risk prediction is more accurate when clinical and polygenic factors are combined (combined risk score [CRS]), but little is known about how CRS results affect real-world patient management.
Deidentified medical and pharmacy claims data were linked with Tyrer-Cuzick (TC) and CRS results and evaluated for BC risk management. Patients were divided into subcohorts on the basis of lifetime risk predicted by CRS and by TC ("+": ≥20% risk, "-": <20%): CRS+ TC+, CRS+ TC-, CRS- TC+, and CRS- TC-. Claims data related to screening mammography (SM) in patients younger than 40 years, breast magnetic resonance imaging (MRI), and genetic counseling (GC) were compared 360 days before and after CRS testing. Differences in pre- and post-CRS management were evaluated using McNemar tests, and post-CRS management of subcohorts was compared using multivariable logistic regression.
After CRS testing, the CRS+ TC+, CRS+ TC-, and CRS- TC+ subcohorts had 1.6-2.2-fold increases in SM in patients younger than 40 years (all < .02) and 4.7-5.6-fold increases in breast MRI (all < .001). The CRS+ TC+ and CRS+ TC- subcohorts had 1.9-2.3-fold increases in GC (both < .001). SM in those younger than 40 years, breast MRI, and GC did not increase in the CRS- TC- subcohort. After CRS testing, compared with the CRS- TC- subcohort, the CRS+ TC+, CRS+ TC-, and CRS- TC+ subcohorts had significantly higher odds of receiving SM before age 40 years (odds ratio [OR], 3.80-5.19), breast MRI (OR, 11.55-23.09), and GC (OR, 2.03-2.91; all < .001).
Patients with ≥20% lifetime risk predicted by either CRS or TC were more likely to receive enhanced management compared with those who had <20% lifetime risk, suggesting that clinicians considered the CRS in BC risk management.
当临床因素和多基因因素相结合（综合风险评分[CRS]）时，乳腺癌（BC）风险预测更为准确，但对于CRS结果如何影响实际临床患者管理却知之甚少。
将去识别化的医疗和药房理赔数据与泰勒 - 库齐克（TC）及CRS结果相链接，并对BC风险管理进行评估。根据CRS和TC预测的终身风险将患者分为亚组（“+”：风险≥20%，“-”：风险<20%）：CRS + TC +、CRS + TC -、CRS - TC +和CRS - TC -。对CRS检测前后360天内40岁以下患者的乳腺钼靶筛查（SM）、乳腺磁共振成像（MRI）和遗传咨询（GC）相关理赔数据进行比较。使用McNemar检验评估CRS检测前后管理的差异，并使用多变量逻辑回归比较亚组的CRS检测后管理情况。
CRS检测后，CRS + TC +、CRS + TC - 和CRS - TC +亚组中，40岁以下患者的SM增加了1.6 - 2.2倍（均P < 0.02），乳腺MRI增加了4.7 - 5.6倍（均P < 0.001）。CRS + TC + 和CRS + TC - 亚组的GC增加了1.9 - 2.3倍（均P < 0.001）。CRS - TC - 亚组中，40岁以下患者的SM、乳腺MRI和GC均未增加。CRS检测后，与CRS - TC - 亚组相比，CRS + TC +、CRS + TC - 和CRS - TC +亚组在40岁前接受SM、乳腺MRI和GC的几率显著更高（优势比[OR]，3.80 - 5.19）、（OR，11.55 - 23.09）和（OR，2.03 - 2.91；均P < 0.001）。
与终身风险<20%的患者相比，由CRS或TC预测终身风险≥20%的患者更可能接受强化管理，这表明临床医生在BC风险管理中考虑了CRS。
