The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.
Genome-wide association studies have identified 94 common single-nucleotide polymorphisms associated with breast cancer risk and 18 associated with ovarian cancer risk. Several of these are also associated with risk of breast cancer or ovarian cancer for women who carry a pathogenic mutation in the high-risk breast cancer and ovarian cancer genes BRCA1 or BRCA2. The combined effects of these variants on breast cancer or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Mayo Clinic researchers constructed polygenic risk scores using breast cancer and ovarian cancer susceptibility single-nucleotide polymorphisms identified through population-based genome-wide association studies: for breast cancer (overall, estrogen receptor-positive, and estrogen receptor-negative) and for ovarian cancer. The study found breast cancer and ovarian cancer polygenic risk scores are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the polygenic risk scores into risk prediction models has promise to better inform decisions on cancer risk management. The study was published in the Journal of the National Cancer Institute.