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Title: Rare germline genetic variants and risk of aggressive prostate cancer.
Austin Authors: Nguyen-Dumont, Tú;MacInnis, Robert J;Steen, Jason A;Theys, Derrick;Tsimiklis, Helen;Hammet, Fleur;Mahmoodi, Maryam;Pope, Bernard J;Park, Daniel J;Mahmood, Khalid;Severi, Gianluca;Bolton, Damien M ;Milne, Roger L;Giles, Graham G;Southey, Melissa C
Affiliation: Gustave Roussy, Villejuif, France
Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Melbourne Bioinformatics, The University of Melbourne, Melbourne, Victoria, Australia
CESP Inserm U1018, Faculté de Médecine - Université Paris-Sud, Faculté de Médecine - UVSQ, Université Paris-Saclay, Villejuif, France
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia
Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia
The University of Melbourne Centre for Cancer Research, Victoria Comprehensive Cancer Centre, Melbourne, Victoria, Australia
Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, Victoria, Australia
Surgery (University of Melbourne)
Issue Date: 15-Oct-2020
Date: 2020-05-08
Publication information: International Journal of Cancer 2020; 147(8): 2142-2149
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%) and 5/769 carriers (0.01%), P = .06, respectively. Our findings contribute to the extensive international effort to interpret the genetic variation identified in genes included on gene-panel tests, for which there is currently an insufficient evidence-base for clinical translation in the context of PrCa risk.
DOI: 10.1002/ijc.33024
ORCID: 0000-0002-6313-9005
Journal: International Journal of Cancer
PubMed URL: 32338768
Type: Journal Article
Subjects: aggressive Prostate cancer
gene panel testing
germline genetic variants
Appears in Collections:Journal articles

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