TY - JOUR
T1 - Temporal trends and regional variability in BRAF and KRAS genetic testing in Denmark (2010-2022)
T2 - Implications for precision medicine
AU - Frost, Matilde Grupe
AU - Jensen, Kristoffer Jarlov
AU - Jimenez-Solem, Espen
AU - Qvortrup, Camilla
AU - Kuhlmann, Tine Plato
AU - Andersen, Jon Lykkegaard
AU - Høgdall, Estrid
AU - Petersen, Tonny Studsgaard
N1 - © 2024 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
PY - 2024/4
Y1 - 2024/4
N2 - 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.
AB - 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.
KW - Humans
KW - Proto-Oncogene Proteins B-raf/genetics
KW - Denmark
KW - Proto-Oncogene Proteins p21(ras)/genetics
KW - Precision Medicine/methods
KW - Genetic Testing/methods
KW - Mutation
KW - Registries
KW - Neoplasms/genetics
KW - Female
KW - Male
KW - Colorectal Neoplasms/genetics
UR - http://www.scopus.com/inward/record.url?scp=85191150135&partnerID=8YFLogxK
U2 - 10.1002/gcc.23236
DO - 10.1002/gcc.23236
M3 - Journal article
C2 - 38656617
SN - 1045-2257
VL - 63
SP - e23236
JO - Genes, Chromosomes & Cancer
JF - Genes, Chromosomes & Cancer
IS - 4
M1 - e23236
ER -