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The changing landscape of Lynch syndrome due to PMS2 mutations

J Blount1, A Prakash1

  • 1Mitchell Cancer Institute, The University of South Alabama, Mobile, Alabama.

Clinical Genetics
|December 30, 2017
PubMed

Insights

The DNA mismatch repair (MMR) pathway, particularly the PMS2 gene, is crucial for preventing cancers like Lynch syndrome. Understanding PMS2 mutations aids in diagnosing genetic cancer predispositions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cancer Research

Background:

  • DNA repair pathways maintain genomic integrity against damaging agents.
  • The DNA mismatch repair (MMR) pathway is vital and conserved across species.
  • Mutations in MMR genes (MLH1, MSH2, MSH6, PMS2) cause Lynch syndrome, increasing cancer risk.

Purpose of the Study:

  • To review the role of PMS2 in the MMR pathway.
  • To discuss evolving PMS2 variant testing criteria and associated syndromes.
  • To explore methods for determining the clinical impact of PMS2 mutations.

Main Methods:

  • Review of literature on DNA repair, MMR, PMS2, Lynch syndrome, and constitutional mismatch repair deficiency.
  • Analysis of current diagnostic and variant interpretation strategies for PMS2.
  • Discussion of methodologies for functional characterization of PMS2 variants.

Main Results:

  • PMS2 is a key component of the MMR pathway, essential for correcting DNA replication errors.
  • Defects in PMS2 are linked to Lynch syndrome and constitutional mismatch repair deficiency.
  • Evolving genetic testing criteria aim to improve the identification of pathogenic PMS2 variants.

Conclusions:

  • Accurate identification and interpretation of PMS2 variants are critical for diagnosing hereditary cancer syndromes.
  • Further research is needed to refine methods for assessing the clinical significance of PMS2 mutations.
  • Understanding PMS2's role impacts genetic counseling and patient management for cancer predisposition.
Keywords:
CMMRDDNA mismatch repairLynch syndromePMS2pseudogenevariants of uncertain significance

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