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Updated: Oct 28, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
07:50

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

5.8K

Crosstalk Between DNA Methylation and Gene Mutations in Colorectal Cancer

Maria Dobre1, Alessandro Salvi2, Iulia Andreea Pelisenco3

  • 1Laboratory of Histopathology and Immunohistochemistry, Victor Babes National Institute of Pathology, Bucharest, Romania.

Frontiers in Oncology
|July 19, 2021
PubMed

Insights

Colorectal cancer (CRC) involves gene mutations and DNA methylation. This study identified nine genes with altered methylation in CRC tumors and found specific methylation patterns linked to BRAF mutations, suggesting potential biomarkers for personalized treatment.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Colorectal cancer (CRC) pathogenesis involves genetic mutations (e.g., KRAS, BRAF) and epigenetic alterations like DNA methylation.
  • Aberrant DNA methylation in tumor suppressor and proto-oncogene promoters is a hallmark of CRC.
  • Understanding these molecular changes is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate DNA methylation profiles in colorectal cancer tissues.
  • To correlate methylation patterns with KRAS and BRAF mutation status in CRC patients.
  • To identify potential epigenetic biomarkers for CRC sub-classification and personalized treatment.

Main Methods:

  • DNA methylation levels of 22 candidate genes were analyzed in tumoral, adjacent normal, and control colon tissues.
  • KRAS and BRAF mutations were assessed in 18 CRC patient samples.
  • Methylation profiles were compared between different tissue types and mutation statuses.

Main Results:

  • A distinct methylation profile of nine genes was identified in CRC tumoral tissues compared to normal tissues.
  • KRAS mutations were found in 40% and BRAF mutations in 22% of the evaluated CRC cases.
  • Six genes (SFRP2, DKK2, PCDH10, TMEFF2, SFRP1, HS3ST2) exhibited higher methylation in BRAF-mutated CRC cases.

Conclusions:

  • Epigenetic modifications, specifically DNA methylation, play a significant role in colorectal cancer development.
  • Specific gene methylation patterns are associated with KRAS and BRAF mutations in CRC.
  • Molecular sub-classification based on mutations and epigenetic alterations can aid in identifying biomarkers for personalized CRC management.
Keywords:
BRAFDNA methylationKRAScolorectal cancermutations

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