Associations of a breast cancer polygenic risk score with tumor characteristics and survival.

• DOI: 10.1200/jco.2022.40.16_suppl.563
• Publication Date: 2022-06-06T15:51:47Z
• Authors: Josephine Lopes C...; Irene L. Andrulis; Devilee Peter; Thilo Dörk; Caroline Drukker; Peter A. Fasching; Maartje J. Hooning; Renske Keeman; Heli Nevanlinna; Emiel J. Rutgers; Laura van 't Veer; Per Hall; Stig Egil Bojesen; Easton Douglas; Diana Eccles; Paul Pharoah; Marjanka Schmidt
• Keywords: Oncology and Carcinogenesis; Clinical Sciences; 610; Breast Neoplasms; 03 medical and health sciences; 0302 clinical medicine; SDG 3 - Good Health and Well-being; Risk Factors; Breast Cancer; Genetics; Humans; Oncology & Carcinogenesis; Breast; 10. No inequality; Cancer; Proportional Hazards Models; Biomedical and Clinical Sciences; Breast Cancer Association Consortium and MINDACT Collaborators; Prevention; Human Genome; Oncology and carcinogenesis; Prognosis; 3. Good health; Good Health and Well Being; Women's Health; Female

563 Background: A polygenic risk score (PRS) consisting of 313 single nucleotide polymorphisms (PRS ) is associated with breast cancer and contralateral cancer. One the most promising clinical applications for use PRS to provide a personalized assessment individualize screening programs. This study aimed evaluate association clinical-pathological characteristics survival Methods: Women European ancestry invasive were included, 98,397 women from Breast Cancer Association Consortium (BCAC) 683 MINDACT trial. Associations between (continuous, per SD) characteristics, including 70-gene signature patients included in MINDACT, evaluated logistic regression analyses. overall (OS), cancer-specific (BCSS) distant metastasis-free interval (DMFI) Cox analyses, adjusted treatment. Results: The was favorable tumor characteristics. In BCAC, increasing mostly lower grade, hormone receptor-positive tumors, smaller size. low signature, but attenuated after adjustment univariable analyses showed an better survival, hazard ratio (HR) unit SD increase OS: 0.96 (95% confidence (CI): 0.94-0.97), BCSS HR: CI: 0.94-0.98) DMFI 0.98 0.96-1.00). unadjusted analysis explained by differences (and treatment) disappeared adjustment: OS 1.01 0.98-1.05), 1.02 0.98-1.07) 1.03 0.99-1.07). Conclusions: An increased not independently prognosis. information crucial input modelling effective stratified programs, especially current era optimized (systemic) treatments. Given significant , absolute mortality will still be higher .