Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort

Integrated tumor (MMR IHC/MSI) + germline profiling in North Indian population, poorly described MLH1/MSH2/MSH6-specific variants

This study characterizes Lynch syndrome by integrated tumor profiling (MMR IHC, MSI) and germline analysis in a North Indian cohort of patients with Lynch-associated tumors (CRC and endometrial cancer). Prevalence data and germline genetic landscape in this population are insufficiently described: population-specific variants are identified in MLH1, MSH2, and MSH6, some not yet reported in major databases. This study fills a representation gap of South Asian populations in the Lynch literature.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Lynch data in Indian populations are rare, and international databases (ClinVar, LOVD) underrepresent subcontinent-specific founder variants. This study contributes to documenting the Indian Lynch landscape, essential for improving variant interpretation in this population with rapidly growing genetic testing uptake.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 7/10