Estimating the prevalence of germline mutations in DNA mismatch repair genes among patients with upper tract urothelial carcinoma: a systematic review and meta-analysis

Key Points

• The aim is to estimate the prevalence of germline mutations in DNA mismatch repair genes in patients with upper tract urothelial carcinoma (UTUC).
• Conducted a systematic review and meta-analysis of existing studies on germline mutations.
• Analyzed data comparing Lynch syndrome prevalence between UTUC and colorectal/endometrial cancers.
• Evaluated the rationale for Lynch syndrome testing in patients with UTUC.
• Estimated Lynch syndrome prevalence in UTUC is similar to that in colorectal and endometrial cancers.
• Findings support the rationale for testing for Lynch syndrome mutations in the UTUC population.
• Suggested need for further research to determine optimal diagnostic strategies.