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
    Studysummary This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    The study analyzed 837 men with aggressive prostate cancer and 7261 controls to investigate the link between rare germline pathogenic variants and aggressive prostate cancer. It found that 10% of men with aggressive prostate cancer carried a pathogenic variant, compared to 4% of controls. Significant associations were identified with variants in BRCA2, BRCA1, and ATM, with odds ratios of 5.8, 5.5, and 3.8, respectively. These findings suggested that incorporating these genetic variants into risk prediction models could improve the identification of men at high risk for aggressive prostate cancer, aiding in better treatment decisions. The study emphasized the potential of genetic testing in identifying individuals at higher risk and highlighted the need for further research to refine cancer risk assessments.
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