Cancer Spectrum and Gene-Specific Patterns in Lynch Syndrome: Insights From 47 Families in a Brazilian Institutional Cohort.

Retrospective cohort of 47 Brazilian Lynch families (729 individuals, 78 confirmed carriers) — tumor spectrum and genotype-phenotype correlations by MMR gene

In a Brazilian institutional Lynch cohort of 47 families (2013–2019, 729 individuals, 78 confirmed carriers), carriers had higher cancer prevalence (64.1% vs 37.9% in untested relatives), younger age at first cancer (42.3 vs 47.3 years), and more multiple primaries. Colorectal cancer predominated across all genes; endometrial tumors were more frequent in MLH1/MSH2 and urothelial tumors in MSH2. The low testing rate (15.2% of relatives) argues for systematizing cascade testing.

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This Brazilian cohort confirms known Lynch patterns in an underrepresented population — essential for adapting recommendations to non-European contexts. The low testing rate of relatives (15.2%) illustrates the worldwide cascade testing challenge. Gene-specific data on urothelial tumors in MSH2 are consistent with the literature and reinforce urological surveillance in this subgroup.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Journal quality: 0/1 → Total: 6/10