Temporal trends and regional variability in BRAF and KRAS genetic testing in Denmark (2010-2022): Implications for precision medicine

Genes Chromosomes Cancer. 2024 Apr;63(4):e23236. doi: 10.1002/gcc.23236.

Abstract

Objective: This study aims to evaluate the developments in the testing of Kirsten Rat Sarcoma viral oncogene homolog (KRAS) and v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) mutations across different cancer types and regions in Denmark from 2010 to 2022.

Study design and setting: Using comprehensive data from the Danish health registries, we linked molecular test results from the Danish Pathology Registry with cancer diagnoses from the Danish National Patient Registry between 2010 and 2022. We assessed the frequency and distribution of KRAS and BRAF mutations across all cancer types, years of testing, and the five Danish regions.

Results: The study included records of KRAS testing for 30 671 patients and BRAF testing for 30 860 patients. Most KRAS testing was performed in colorectal (78%) and lung cancer (18%), and BRAF testing in malignant melanoma (13%), colorectal cancer (67%), and lung cancer (12%). Testing rates and documentation mutational subtypes increased over time. Reporting of wildtype results varied between lung and colorectal cancer, with underreporting in lung cancer. Regional variations in testing and reporting were observed.

Conclusion: Our study highlights substantial progress in KRAS and BRAF testing in Denmark from 2010 to 2022, evidenced by increased and more specific reporting of mutational test results, thereby improving the precision of cancer diagnosis and treatment. However, persistent regional variations and limited testing for cancer types beyond melanoma, colorectal, and lung cancer highlight the necessity for a nationwide assessment of the optimal testing approach.

Keywords: KRAS oncogene; epidemiology; genetic testing; personalized medicine; precision oncology; proto oncogene protein B raf.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / genetics
  • Denmark
  • Female
  • Genetic Testing* / methods
  • Genetic Testing* / standards
  • Genetic Testing* / statistics & numerical data
  • Humans
  • Male
  • Mutation
  • Neoplasms / diagnosis
  • Neoplasms / genetics
  • Precision Medicine / methods
  • Proto-Oncogene Proteins B-raf* / genetics
  • Proto-Oncogene Proteins p21(ras)* / genetics
  • Registries

Substances

  • BRAF protein, human
  • KRAS protein, human
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins p21(ras)