Abstract RF1-06: Association of polygenic-based breast cancer risk prediction with patient management

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Abstract Background:A breast cancer (BC) risk predictor that combines the Tyrer-Cuzick (TC) risk model with a polygenic risk score (“combined risk score” or CRS) has been shown to significantly improve risk prediction over TC alone. Guidelines recommend that individuals predicted to have ≥20% remaining lifetime risk of BC undergo enhanced management, including annual screening mammography (SM) as early as age 30, annual breast MRI, and genetic counseling (GC). However, little is known about whether and how clinicians manage patients based on risk predicted by CRS. Here, we describe the uptake of mammography, breast MRI, and GC following receipt of CRS results. Methods:De-identified administrative claims data from the Optum Labs Data Warehouse were linked with de-identified TC and CRS results originally provided to ordering clinicians between August 1, 2017 and November 30, 2021. Patients were included in the cohort if they had continuous medical and pharmacy enrollment for ≥360 days prior to and ≥360 days after the CRS result and were ≥18 years of age. Patients were excluded if they had a history of breast malignancy, BC, or any metastatic cancer during baseline; evidence of BC prevention measures (tamoxifen, raloxifene, aromatase inhibitors, pre-menopausal ovarian function suppression, or mastectomy) prior to receiving CRS results; or evidence of any cancer diagnosis in the ≥360 days after receiving CRS results. Patients were divided into four subgroups based on their lifetime risk predicted by CRS and by TC alone (high risk (+): ≥20%, average risk (-): <20%): CRS+ TC+, CRS+ TC-, CRS- TC+, and CRS- TC-. Patient management claims were assessed in the ≥360 days after the CRS test date. Results:The study cohort consisted of 8,662 patients: 2,443 (28.0%) CRS+ TC+, 696 (8.0%) CRS+ TC-, 856 (9.9%) CRS- TC+, and 4,687 (54.1%) CRS- TC-. Mean lifetime risk of breast cancer predicted by the CRS in each group was 29.9% (SD 7.9%), 24.5% (SD 4.3%), 16.4% (SD 2.6%), and 11.2% (SD 4.4%), respectively. Among the 3,309 patients with ≥20% lifetime risk predicted by TC (TC+), 856 (25.9%) had a lifetime risk <20% predicted by the CRS (CRS-). Conversely, among the 5,383 patients with lifetime risk <20% predicted by TC (TC-), 696 (12.9%) had a lifetime risk ≥20% predicted by the CRS (CRS+). Following receipt of CRS results, compared to the CRS- TC-group, the rate of SM in patients under age 40 years was 2.4, 2.2, and 1.9 times higher in the CRS+ TC+, CRS+ TC-, and CRS- TC+ groups, respectively; the rate of breast MRI was 13.8, 8.3, and 7.9 times higher in the CRS+ TC+, CRS+ TC-, and CRS- TC+ groups, respectively; and the rate of GC was 3.2, 2.9, and 2.4 times higher in the CRS+ TC+, CRS+ TC-, and CRS- TC+ groups, respectively. Conclusions:For a substantial proportion of patients, the CRS predicted a different risk level compared to TC, suggesting that these patients should be managed differently based on their CRS result. Patients with a ≥20% lifetime risk for BC were more likely to undergo enhanced management compared to those with a lifetime risk <20%, regardless of whether their risk was based on the CRS or on TC. These results suggest that clinicians recommended management aligned with guidelines for those with ≥20% lifetime risk, even when such risk was predicted by the CRS. Citation Format: Katie Johansen Taber, Sarah Ratzel, Elisha Hughes, Alexander Gutin, Jeff Jasper, D. Claire Miller, Devika Chawla, Brady DeHart, Laura Becker, Pamela Morin, Julia Certa, Allison Kurian. Association of polygenic-based breast cancer risk prediction with patient management [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr RF1-06.

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