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KRAS and BRAF mutational status in colon cancer from Albanian patients

Daniela Martinetti, Rosario Costanzo, Shahin Kadare

  • 1IOM Ricerca Srl, Catania, Italy. lorenzo.memeo@grupposamed.com.

Diagnostic Pathology
|October 1, 2014
PubMed
Abstract

Insights

KRAS and BRAF mutations are important in predicting response to anti-EGFR therapy in colorectal cancer. This study analyzed these mutations in Albanian patients, finding specific mutation frequencies that could aid in treatment selection.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Diagnostics

Background:

  • Anti-EGFR therapies are effective in a subset of colorectal cancer (CRC) patients.
  • KRAS and BRAF gene mutations are established negative predictors for anti-EGFR therapy response.
  • Understanding mutation status is crucial for personalized CRC treatment strategies.

Purpose of the Study:

  • To evaluate the status of KRAS and BRAF mutations in a cohort of Albanian colorectal cancer patients.
  • To establish baseline mutation frequencies for these key genes in this specific population.
  • To assess the potential utility of mutation analysis in guiding anti-EGFR therapy selection.

Main Methods:

  • Direct sequencing was used to analyze KRAS mutations in codons 12, 13, 61, 146 and BRAF mutations in codon 600.
  • A total of 159 colorectal cancer samples were analyzed.
  • Clinicopathological data including patient demographics and tumor stage were collected.

Main Results:

  • KRAS mutations were identified in 17.6% of cases (28/159), with G12D being the most common.
  • BRAF mutations were found in 6.3% of cases (10/159), exclusively V600E.
  • No significant correlations were found between KRAS/BRAF mutations and clinicopathological parameters in this cohort.

Conclusions:

  • This study provides the first report on KRAS and BRAF mutation status in Albanian CRC patients.
  • The identified mutation frequencies contribute to the understanding of CRC molecular landscape.
  • KRAS and BRAF mutation analysis can inform patient selection for anti-EGFR therapy.

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