Session # Abstract Poster# 614

Lifetime Risk of Breast Cancer from Polygenic Risk Scores Combined with Clinical Assessment in Women Referred for Genetic Testing

  • Average lifetime risk estimated by clinical models for women referred for genetic testing is high (mean Tyrer-Cuzick estimated lifetime risk was ~23%, and ~60% of women had lifetime risk >20%).
  • Among women with lifetime risk <20% based on Tyrer-Cuzick alone, most had a clinical-PRS combined lifetime risk <20%. The clinical-PRS lifetime risk was >20% threshold for ~20% of these women (19.0% and 1.4% had combined risks ranging 20-50% and >50%, respectively).
  • The majority of women whose combined risk was elevated above the 20% threshold had moderate Tyrer-Cuzick risk (10-20%) and high PRS. Therefore, a high PRS may result in an increased lifetime risk estimate for women who would otherwise have modest clinically-estimated risk.

  • Authors: Mary Helen Black; Stephanie Gutierrez; Shuwei Li; Jill Dolinsky; Jessica Profato; Holly LaDuca
  • Conference: Annual Clinical Genetics Meeting (ACMG) 2019
  • Date: Friday, Apr 05, 2019 10:30am - 12:00pm

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