RASSF1A and the rs2073498 Cancer Associated SNP

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Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform
06:21

Multi-Gene Single Nucleotide Polymorphism Detection in Gastric Cancer Based on Ion Semiconductor Sequencing Platform

Published on: May 10, 2024

Howard Donninger1, Thibaut Barnoud, Nick Nelson

  • 1Molecular Targets Program, Department of Medicine, James Graham Brown Cancer Center, University of Louisville Louisville, KY, USA.

Frontiers in Oncology
|June 1, 2012
PubMed

Insights

The RASSF1A tumor suppressor protein, altered by a common single nucleotide polymorphism (SNP), shows functional differences. While this SNP impacts protein interactions and activity, its link to breast cancer risk is modest.

Area of Science:

  • Molecular biology
  • Oncology
  • Proteomics

Background:

  • RASSF1A is a frequently inactivated tumor suppressor in human cancers, acting as a scaffold protein and integrating growth/death signaling pathways.
  • A specific single nucleotide polymorphism (SNP) in RASSF1A, rs2073498 (A133S), is present in ~29% of European populations.
  • Previous studies suggest a potential association between this RASSF1A SNP and increased breast cancer risk.

Purpose of the Study:

  • To investigate the functional consequences of the RASSF1A SNP (rs2073498, A133S) on protein-protein interactions and biological activity.
  • To clarify the association between the RASSF1A SNP and breast cancer predisposition.

Main Methods:

  • Utilized a proteomics-based approach to compare protein/protein interaction patterns between wild-type RASSF1A and the SNP variant.
  • Assessed the biological activity of both wild-type and SNP variant RASSF1A proteins.

Main Results:

  • Identified significant differences in protein/protein interaction profiles mediated by wild-type versus SNP variant RASSF1A.
  • Detected a significant difference in the biological activity between the wild-type and SNP variant RASSF1A proteins.
  • Observed only a modest association between the RASSF1A SNP and breast cancer predisposition.

Conclusions:

  • The RASSF1A SNP (rs2073498, A133S) demonstrably alters RASSF1A's protein interaction network and biological function.
  • Despite functional alterations, the SNP shows a limited role in breast cancer predisposition, suggesting other factors are more significant.
Keywords:
RASSF1ARasSNPbreast cancer

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