Urothelial cancer is a type of cancer that begins in the urothelial cells lining the inside of the bladder, ureters, or renal pelvis of the kidney. I
Highlights
- •Germline P/LP variants occur in 10% to 15% of urothelial cancers, up to 20% in UTUC.
- •Lynch syndrome is the leading hereditary cause; MSH2 confers the highest risk.
- •MMR-deficient tumours, seen in Lynch, are highly sensitive to immune checkpoint inhibition.
- •Tumour MMR screening is imperfect and limited by scarce tissue in UTUC biopsies.
- •Universal germline testing in UTUC and a bladder cancer framework are overdue.
https://www.sciencedirect.com/science/article/abs/pii/S1078143926005971
Lynch Syndrome Ireland 