Lynch Syndrome Tumor and Germline Profiles from a North Indian Cohort

Himanshi Diwan's dataset contains integrated tumor and germline profiling data for Lynch syndrome from a North Indian cohort. The study retrospectively evaluated 136 individuals with Lynch syndrome-associated malignancies or strong family history between January 2020 and February 2025. It includes results from tumor mismatch repair immunohistochemistry and germline sequencing of MLH1, MSH2, MSH6, and PMS2 genes.

Use Cases

• Assessing the prevalence of Lynch syndrome based on tumor mismatch repair status and germline mutation data.
• Identifying common pathogenic variants and founder effects based on reported gene mutation frequencies and ancestry.
• Correlating germline mutation profiles with specific cancer types based on the reported colorectal and endometrial cancer case breakdown.

Strengths

• Includes data from 136 individuals assessed at a tertiary cancer center.
• Reports a confirmed Lynch syndrome prevalence of 38.9% (53 individuals) within the cohort.
• Identifies a specific recurrent pathogenic variant (MLH1 c.306G>T) accounting for nearly one-quarter of cases.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data is limited to a single North Indian cohort, which may affect generalizability.

Provenance

Source

Himanshi Diwan via figshare.

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, with noted observations in individuals of Punjabi ancestry.