Lynch Syndrome Tumor and Germline Profiles from a North Indian Cohort, 2020-2025

A retrospective study of 136 individuals assessed at a tertiary cancer center in North India between January 2020 and February 2025. The dataset contains integrated tumor and germline profiling results, confirming Lynch syndrome in 53 individuals (38.9%), with colorectal and endometrial cancers as the primary malignancies. It was authored by Himanshi Diwan and shared under a CC-BY-4.0 license.

Use Cases

• Identify common pathogenic variants in mismatch repair genes based on germline sequencing results.
• Analyze the association between tumor MMR status and confirmed Lynch syndrome diagnosis.
• Study the founder effect of the MLH1 c.306G>T variant within the Punjabi ancestry subgroup.
• Calculate the prevalence of Lynch syndrome among colorectal and endometrial cancer cases in a North Indian population.

Strengths

• Includes germline analysis from blood samples for 136 individuals using next-generation sequencing.
• Reports a specific, recurrent pathogenic variant (MLH1 c.306G>T) accounting for nearly one-quarter of Lynch syndrome cases.
• Provides a clear temporal and geographic scope: data from a North Indian cohort collected between January 2020 and February 2025.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The 295.1 KB file size suggests a limited scope, likely containing summary results rather than raw sequencing data.

Provenance

Source

figshare, author Himanshi Diwan.

Collection Method

Retrospective evaluation using tumor immunohistochemistry/microsatellite instability testing and germline next-generation sequencing.

Time Range

January 2020 to February 2025

Freshness

Last updated 2026-05-19 04:20:51; freshness should be verified.

Geography

North India, specifically a tertiary cancer center and a cohort with Punjabi ancestry noted.