Collaborator: Northshore University Health System

• ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

• Validation of a prostate cancer polygenic risk score

• Prevalence of Germline Pathogenic and Likely Pathogenic Variants in Patients With Second Breast Cancers

• Diagnosing Hereditary Cancer Predisposition in Men with Prostate Cancer

  Abstract Purpose We describe the pathogenic variant spectrum and identify predictors of positive results among men referred for clinical genetic testing for prostate cancer. Methods One thousand eight hundred twelve men with prostate cancer underwent clinical multigene panel testing between April 2012 and September 2017. Stepwise logistic regression determined the most reliable predictors of positive…

• Rare Germline Pathogenic Mutations of DNA Repair Genes are Most Strongly Asssociated with Grade Group 5 Prostate Cancer

  Abstract Background Rare germline mutations in several genes, primarily DNA repair genes, have been proposed to predict worse prognosis of prostate cancer (PCa). Objective To compare the frequency of germline pathogenic mutations in commonly assayed PCa genes between high- and low-grade PCa in patients initially presenting with clinically localized disease. Design, setting, and participants A…