Live Virtual Presentation Clinical Oncology Society of Australia Annual Scientific Meeting 2020

Breast Cancer Polygenic Risk Scores: A Review of Clinical Utility and the Ethical, Legal and Social Implications of an Emerging Field (#49)

Tatiane Yanes 1
  1. University of QLD, Woolloongabba, QLD, Australia

Breast cancer is a common disorder with a strong hereditary contribution. However, much of the hereditary component of breast cancer remains unexplained, with pathogenic variants in moderate- (e.g. ATM, CHEK2) and high-risk genes (e.g. BRCA1 and BRCA2) accounting for less than 25% of the familial risk for the disease.1  Advances in genomic technology have identified hundreds of single nucleotide polymorphism (SNPs) associated with breast cancer risk. Individually each SNP has a small effect on breast cancer risk, but their combined effect, in the form of a polygenic risk scores (PRS), has been shown to provide a degree of risk discrimination that can be used to stratify individuals into different categories of disease risk. Polygenic testing promises to revolutionize health services by providing personalized risk assessments to women at increased risk of breast cancer and within population breast screening programs. However, implementation of polygenic testing needs to be considered in light of its current limitations, including limited risk prediction for women of non-European ancestry, limited studies evaluating clinical utility and limited evidence of the ethical, legal and social implications of providing PRS. Despite these concerns, testing for breast cancer PRS is now being implemented in clinical practice with several commercial genetic testing laboratory offering the test. Hence, this presentation will i) provide an overview of breast cancer PRS and evidence for clinical utility,2,3 and ii) report the findings of a 12-month prospective study evaluating the psychosocial outcomes and risk management behaviour responses of women who received their personal PRS.4-6 

  1. Bahcall O. Common variation and heritability estimates for breast, ovarian and prostate cancers. Nature iCOGS. 2013.
  2. Yanes T, et al. Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field. Breast Cancer Res. 2020;22(1):21.
  3. Yanes T, et al. The emerging field of polygenic risk scores and perspective for use in clinical care. Hum Mol Genet. 2020.
  4. Yanes T, et al. Women’s responses and understanding of polygenic breast cancer risk information. Fam Cancer. 2020.
  5. Yanes T, et al. Uptake of polygenic risk information among women at increased risk of breast cancer. Clin Genet. 2020;97(3):492-501.
  6. Yanes T, et al. Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study. BMC Cancer. 2017;17(1):491.