Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
Daniel R Barnes1, Valentina Silvestri2, Goska Leslie1
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Journal of the National Cancer Institute
|July 28, 2021
Summary
Polygenic risk scores (PRS) for breast and prostate cancer are associated with cancer risks in male BRCA1 and BRCA2 carriers. These scores can help personalize cancer risk assessment and clinical management for these individuals.
Area of Science:
- Genetics
- Oncology
- Risk Assessment
Background:
- Recent development of population-based polygenic risk scores (PRS) for female breast and prostate cancer.
- Assessing the utility of these PRS in male carriers of BRCA1 and BRCA2 pathogenic variants.
Purpose of the Study:
- To evaluate the association of established breast and prostate cancer PRS with cancer risks in male BRCA1 and BRCA2 carriers.
- To determine the potential of PRS in refining cancer risk predictions for this specific population.
Main Methods:
- Utilized data from 483 BRCA1 and 1318 BRCA2 male carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
- Evaluated a 147-SNP prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS (including versions for overall, ER-negative, and ER-positive risk).
Main Results:
- The ER-positive breast cancer PRS (PRSER+) showed the strongest association with breast cancer risk (ORs ranging from 1.33-1.40 per SD).
- The prostate cancer PRS (PRSPC) was significantly associated with prostate cancer risk in both BRCA1 (OR=1.73) and BRCA2 (OR=1.60) carriers.
- By age 85, BRCA2 carriers showed a wide range of risks (e.g., 7.7%-18.4% for breast cancer, 34.1%-87.6% for prostate cancer) based on PRS percentiles.
Conclusions:
- Population-based PRS for breast and prostate cancer are linked to varied absolute cancer risks in male BRCA1/2 carriers.
- Further research is needed to integrate PRS for personalized risk assessment and improved clinical management in male carriers.
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