Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer

    March 2021 in “ Cancers
    Tú Nguyen‐Dumont, James G. Dowty, Robert J. MacInnis, Jason A. Steen, Moeen Riaz, Pierre‐Antoine Dugué, Anne‐Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, Helen Tsimiklis, Gianluca Severi, Damien Bolton, Paul Lacaze, Robert Sebra, Eric Schadt, John J. McNeil, Graham G. Giles, Roger L. Milne, Melissa C. Southey
    TLDR Certain genetic variants increase the risk of aggressive prostate cancer.
    This study investigated the role of rare germline pathogenic variants in predicting aggressive prostate cancer (PrCa) by analyzing 837 men with aggressive PrCa and 7261 controls. It found that 10% of men with aggressive PrCa carried a pathogenic variant compared to 4% of controls, with significant associations for variants in BRCA2, BRCA1, and ATM genes. The study concluded that these genetic variants are linked to an increased risk of aggressive PrCa and suggested their inclusion in risk prediction models to better identify men at high risk and those needing urgent treatment.
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