Journal article
Rare germline genetic variants and risk of aggressive prostate cancer
Tu Nguyen-Dumont, Robert J MacInnis, Jason A Steen, Derrick Theys, Helen Tsimiklis, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Daniel J Park, Khalid Mahmood, Gianluca Severi, Damien Bolton, Roger L Milne, Graham G Giles, Melissa C Southey
INTERNATIONAL JOURNAL OF CANCER | WILEY | Published : 2020
DOI: 10.1002/ijc.33024
Abstract
Few genetic risk factors have been demonstrated to be specifically associated with aggressive prostate cancer (PrCa). Here, we report a case-case study of PrCa comparing the prevalence of germline pathogenic/likely pathogenic (P/LP) genetic variants in 787 men with aggressive disease and 769 with nonaggressive disease. Overall, we observed P/LP variants in 11.4% of men with aggressive PrCa and 9.8% of men with nonaggressive PrCa (two-tailed Fisher's exact tests, P = .28). The proportion of BRCA2 and ATM P/LP variant carriers in men with aggressive PrCa exceeded that observed in men with nonaggressive PrCa; 18/787 carriers (2.3%) and 4/769 carriers (0.5%), P = .004, and 14/787 carriers (0.02%..
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Awarded by National Breast Cancer Foundation
Awarded by National Health and Medical Research Council
Funding Acknowledgements
National Breast Cancer Foundation, Grant/Award Number: ECF-17-001; National Health and Medical Research Council, Grant/Award Numbers: APP1155163, APP1074383; Victorian Cancer Agency