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PMS2-associated Lynch syndrome: Past, present and future.

Katarina D Andini¹, Maartje Nielsen², Manon Suerink²

¹Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

Frontiers in Oncology

|March 10, 2023

Summary

Pathogenic variants in mismatch repair (MMR) genes influence cancer risk, with PMS2 variants leading to more aggressive colorectal cancer (CRC) and potentially different treatment strategies.

Keywords:

Lynch syndrome (hereditary nonpolyposis colorectal cancer)PMS2 gene carcinonogenesis colorectal cancer endometrial cancer mismatch repair (MMR)

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Area of Science:

Genetics and Genomics
Oncology
Molecular Biology

Background:

Mismatch repair (MMR) gene variants traditionally confer similar cancer risks, primarily colorectal cancer (CRC) and endometrial cancer.
Emerging evidence indicates that the specific MMR gene affected influences cancer risk, spectrum, and Lynch syndrome CRC pathogenesis.
Significant knowledge gaps persist, particularly regarding pathogenic variants in PMS2 (path_PMS2).

Purpose of the Study:

To review current knowledge on MMR gene variants and associated cancer risks.
To highlight clinical challenges and knowledge gaps, especially for path_PMS2 carriers.
To discuss implications for future research and clinical management.

Main Methods:

Literature review of current research on MMR gene variants and Lynch syndrome.
Analysis of recent findings on PMS2-deficient colorectal cancers (CRCs).
Discussion of molecular pathogenesis and clinical implications.

Main Results:

Cancer risk and spectrum vary significantly based on the affected MMR gene.
PMS2-deficient CRCs exhibit more aggressive behavior and poorer prognosis compared to other MMR-deficient CRCs.
PMS2-deficient CRCs show lower intratumoral immune infiltration, suggesting biological similarities to sporadic MMR-proficient CRCs.

Conclusions:

Understanding MMR gene-specific differences is crucial for personalized cancer risk assessment and management.
PMS2 deficiency presents unique biological and clinical characteristics requiring further investigation.
Findings have potential implications for surveillance, chemoprevention, and therapeutic strategies, including vaccine development.