Genitourinary cancer predisposition syndromes
Genetic Predisposition to Disease
Neoplastic Syndromes, Hereditary
Despite epidemiologic data supporting a significant genetic contribution to the cause of genitourinary malignancies, their diagnosis rarely results in clinical genetics referral and the heritability of prostate, bladder, kidney, and testicular cancer remains poorly understood. Little of this inheritance has been explained by rare, high-penetrance predisposition syndromes and, although rare genetic variation may explain some of the remaining familial predisposition, recent genome-wide association studies support an important causal role for more common genomic variation and other structural variants. Susceptibility loci associated with risk of prostate, bladder, and testicular cancer have been identified that may improve our understanding of the cause and natural history of these malignancies. It remains to be seen whether this emerging knowledge of genetic predisposition can meaningfully contribute to the clinical management of genitourinary malignancies.