Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Amin H NassarSarah Abou AlaiwiSaud H AlDubayanNicholas MooreKent W MouwDavid J KwiatkowskiToni K ChoueiriCatherine CurranJacob E BerchuckLauren C HarshmanPier V NuzzoNieves Martinez ChanzaEliezer Van AllenEdward D EsplinShan YangThomas CallisJudy E GarberHuma Q RanaGuru P Sonpavde

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

In this study, 24% of UC patients harbored pathogenic germline variants and 18.6% had clinically actionable variants. MLH1 and MSH2 were validated as UC risk genes while ATM and BRCA2 were highlighted as potential UC predisposition genes. This work emphasizes the utility of germline testing in selected high-risk UC cohorts.

Keyphrases

dna repair
copy number
end stage renal disease
genome wide
ejection fraction
chronic kidney disease
newly diagnosed
dna damage
prognostic factors
gene expression
risk assessment
patient reported outcomes
transcription factor