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: American Society of Clinical Oncology (ASCO) 2018
  • Date: Sunday, Jun 03, 2018 8:00am - 11:00am

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