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

IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Genes, Chromosomes & Cancer Pub Date : 2024-04-24 DOI:10.1002/gcc.23236
Matilde Grupe Frost, Kristoffer Jarlov Jensen, Espen Jimenez-Solem, Camilla Qvortrup, Tine Plato Kuhlmann, Jon Lykkegaard Andersen, Estrid Høgdall, Tonny Studsgaard Petersen
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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.

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丹麦 BRAF 和 KRAS 基因检测的时间趋势和地区差异(2010-2022 年):对精准医疗的影响
本研究旨在评估 2010 年至 2022 年期间丹麦不同癌症类型和地区在检测 Kirsten 鼠肉瘤病毒癌基因同源物 (KRAS) 和 v-Raf 鼠肉瘤病毒癌基因同源物 B1 (BRAF) 突变方面的发展情况。 研究设计与背景 我们利用丹麦健康登记处的综合数据,将丹麦病理登记处的分子检测结果与丹麦全国患者登记处 2010 年至 2022 年的癌症诊断结果联系起来。我们评估了 KRAS 和 BRAF 突变在所有癌症类型、检测年份和丹麦五个地区的频率和分布情况。 结果 研究包括 30 671 名患者的 KRAS 检测记录和 30 860 名患者的 BRAF 检测记录。大多数 KRAS 检测在结直肠癌(78%)和肺癌(18%)中进行,BRAF 检测在恶性黑色素瘤(13%)、结直肠癌(67%)和肺癌(12%)中进行。随着时间的推移,检测率和记录的突变亚型也在增加。肺癌和结直肠癌对野生型结果的报告各不相同,肺癌报告不足。检测和报告也存在地区差异。 结论 我们的研究突出表明,从 2010 年到 2022 年,丹麦在 KRAS 和 BRAF 检测方面取得了长足的进步,这体现在突变检测结果的报告越来越多、越来越具体,从而提高了癌症诊断和治疗的精确度。然而,除黑色素瘤、结肠直肠癌和肺癌外,其他癌症类型的检测仍存在地区差异且检测范围有限,这凸显了在全国范围内评估最佳检测方法的必要性。
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来源期刊
Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer 医学-遗传学
CiteScore
7.00
自引率
8.10%
发文量
94
审稿时长
4-8 weeks
期刊介绍: Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.
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