122. Prostate cancer and other clinical features by polygenic risk score

Aly Abdelkareem

Christina Spears

Christina Spears received her Master of Science in Human Genetics from The Ohio State University in May 2022.  Her passion as a genetic counselor is in cancer research and her thesis was on clinical features of prostate cancer and polygenic risk scores. Currently, she is an Assistant Professor at The Ohio State University for the Genetic Counseling Graduate Program and a Genetic Counselor for The Ohio State University’s High-Risk Breast Cancer Clinic.


Christina Spears, Lindsey Byrne, Amanda Toland, Shawn Dason, Abigail Shoben

The Ohio State University, Columbus, OH, USA

Prostate cancer is the second most common cancer in American men and the second leading cause of cancer death in the USA. Genome-wide association studies (GWAS) have identified more than 170 single nucleotide polymorphisms (SNPs) associated with prostate cancer, which can be combined to make a Polygenic Risk Score (PRS) and give an individual their risk to develop prostate cancer. To our knowledge, studies have not been done to determine if there is a relationship between PRS and features of prostate cancer in men ascertained in a clinical setting. Thus, this study aims to investigate risk factors associated with prostate cancer including: age of diagnosis, ISUP Grade Group, metastatic status, histology, and family history of prostate cancer, to determine how they correlate with PRS amongst men who do not have a germline pathogenic variant in a known prostate cancer related gene. A quantitative retrospective chart review of 175 men diagnosed with prostate cancer, who received genetic counseling services at the Ohio State University’s Genitourinary Cancer Genetics Clinic, and a PRS through Ambry Genetics was generated. Men diagnosed over 60 years of age were more likely to have a low PRS (57%) than a high PRS (32%) (p-value of 0.009). This supports the hypothesis that men diagnosed with prostate cancer at younger ages will have higher PRS and vice versa. We did not find a significant relationship between PRS and ISUP GG, metastatic status, histology, or family history in a first or second-degree relative.