Session # 1508

Polygenic risk score for breast cancer in high-risk women

Speaker: Celine Vachon, MD. PhD (Mayo Clinic)

• We evaluated a 100-SNP polygenic risk score (PRS) in a high-risk patient population of Caucasian women referred for genetic testing, to determine the extent to which the PRS is predictive of breast cancer.
• The PRS was significantly higher in cases than controls (mean±SD 1.20±0.88 vs. 0.95±0.69, p<0.0001). The ability of our PRS to predict breast cancer was consistent with prior literature (AUROC=0.61), suggesting that the PRS used in AmbryScore assessed in high-risk patients performs similarly to risk scores reported in a broader population.
• Our PRS along with clinical risk factors can be used to provide a remaining lifetime breast cancer risk estimate and may be important for guiding management recommendations.

• Speakers: Mary Helen Black; Shuwei Li; Holly LaDuca; Jeffery Checn; Robert Hoiness; Stephanie Gutierrez; Hsiao-Mei Lu; Jill S Dolinsky; Jianfeng Xu; Celine Vachon; Fergus J. Couch; Brigette Tippin Davis
• Collaborators: Mayo Clinic
• Conference: ASCO 2018
• Date: Sunday, Jun 03, 2018 8:00am - 11:00am