# MSH6 and PMS2 expression in colorectal carcinoma

**Authors:** Safin M, Marylilly S, Janhavi MS

PMC · DOI: 10.6026/973206300214968 · 2025-12-15

## TL;DR

This study examines MSH6 and PMS2 protein levels in colorectal cancer to better understand their role in diagnosis and prognosis.

## Contribution

The study identifies a 30% occurrence of combined MSH6 and PMS2 loss in CRC, linked to specific tumor characteristics.

## Key findings

- Combined loss of MSH6 and PMS2 (MSI-H) was found in 30% of colorectal cancer cases.
- MSI-H was more common in poorly differentiated and T3 stage tumors.
- MSI-H was associated with stage II and III cancers and node-positive groups.

## Abstract

Microsatellite instability (MSI) is a key feature in colorectal carcinomas (CRCs), but its role in diagnosis and prognosis, particularly
through immunohistochemical markers like MSH6 and PMS2, remains underexplored. Conducted at Sree Balaji Medical College and Hospital, 50
histologically confirmed CRC samples were analyzed. Combined loss of MSH6 and PMS2 (MSI-H) was found in 30% of cases, particularly in poorly
differentiated tumors, T3 stage tumors, stage II and III cancers, and node-positive groups. Thus, understanding of microsatellite instability
(MSI) detection in colorectal carcinomas (CRCs) using immune histochemical markers MSH6 and PMS2, improving diagnostic and prognostic
approaches for CRC.

## Linked entities

- **Genes:** MSH6 (mutS homolog 6) [NCBI Gene 2956], PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395]
- **Diseases:** colorectal carcinoma (MONDO:0024331), colorectal cancer (MONDO:0005575)

## Full-text entities

- **Genes:** MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}
- **Diseases:** CRCs (MESH:D009369), CRC (MESH:D015179), MSI-H (MESH:D053842)

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Source: https://tomesphere.com/paper/PMC13018393