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 tumors, seen in Lynch, are highly sensitive to immune checkpoint inhibition.
•Tumor 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/S1470204526002159?dgcid=coauthor
Lynch Syndrome Ireland 