Journal article

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

Tu Nguyen-Dumont, James G Dowty, Robert J MacInnis, Jason A Steen, Moeen Riaz, Pierre-Antoine Dugue, Anne-Laure Renault, Fleur Hammet, Maryam Mahmoodi, Derrick Theys, Helen Tsimiklis, Gianluca Severi, Damien Bolton, Paul Lacaze, Robert Sebra, Eric Schadt, John McNeil, Graham G Giles, Roger L Milne, Melissa C Southey

Cancers | MDPI | Published : 2021

Abstract

While gene panel sequencing is becoming widely used for cancer risk prediction, its clinical utility with respect to predicting aggressive prostate cancer (PrCa) is limited by our current understanding of the genetic risk factors associated with predisposition to this potentially lethal disease phenotype. This study included 837 men diagnosed with aggressive PrCa and 7261 controls (unaffected men and men who did not meet criteria for aggressive PrCa). Rare germline pathogenic variants (including likely pathogenic variants) were identified by targeted sequencing of 26 known or putative cancer predisposition genes. We found that 85 (10%) men with aggressive PrCa and 265 (4%) controls carried a..

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Grants

Awarded by National Health and Medical Research Council (NMHRC, Australia) Program grant


Awarded by National Breast Cancer Foundation (Australia) Career Development Fellow


Awarded by NMHRC Senior Research Fellow


Funding Acknowledgements

This work was supported by a National Health and Medical Research Council (NMHRC, Australia) Program grant (APP1074383) and Monash University. TN-D is a National Breast Cancer Foundation (Australia) Career Development Fellow (ECF-17-001). M.C.S. is a NMHRC Senior Research Fellow (APP1155163).