ArticleThe Journal of molecular diagnostics : JMD2011
Detection of KRAS and BRAF mutations in colorectal carcinoma roles for high-sensitivity locked nucleic acid-PCR sequencing and broad-spectrum mass spectrometry genotyping.
Article in The Journal of molecular diagnostics : JMD, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
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Who cites it
82 citing papers in PubMed, 139 citations in OpenAlex.
- Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Trial
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- Phase II trial of neoadjuvant bevacizumab plus chemotherapy and adjuvant bevacizumab in patients with resectable nonsquamous non-small-cell lung cancers.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2013Trial
- Low percentage of KRAS mutations revealed by locked nucleic acid polymerase chain reaction: implications for treatment of metastatic colorectal cancer.Molecular medicine (Cambridge, Mass.) · 2013Trial
- Artificial intelligence and machine learning-driven advancements in gastrointestinal cancer: Paving the way for precision medicine.World journal of gastroenterology · 2026Review
- Towards Targeting Endothelial Rap1B to Overcome Vascular Immunosuppression in Cancer.International journal of molecular sciences · 2024Review
- An Integrated Strategy for Analyzing the Complete Complex Integrated Structure of Maize MON810 and Identification of an SNP in External Insertion Sequences.Plants (Basel, Switzerland) · 2024Article
- High throughput AS LNA qPCR method for the detection of a specific mutation in poliovirus vaccine strains.Vaccine · 2024Article
- HAMLET effect on cell death and mitochondrial respiration in colorectal cancer cell lines with KRAS/BRAF mutations.Journal of cancer research and clinical oncology · 2023Article
- Single targeting of MET in EGFR-mutated and MET-amplified non-small cell lung cancer.British journal of cancer · 2023Article
- BRAF V600E and Novel Somatic Mutations in Thyroid Cancer of Libyan Patients.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- Limitations and opportunities of technologies for the analysis of cell-free DNA in cancer diagnostics.Nature biomedical engineering · 2022Review
- Detection ofInternational journal of endocrinology · 2022Article
- NRAS Q61R immunohistochemical staining in thyroid pathology: sensitivity, specificity and utility.Histopathology · 2021Article
- Comprehensive Molecular and Clinicopathologic Analysis of 200 Pulmonary Invasive Mucinous Adenocarcinomas Identifies Distinct Characteristics of Molecular Subtypes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2021Article
- Invasive Mucinous Adenocarcinomas With Spatially Separate Lung Lesions: Analysis of Clonal Relationship by Comparative Molecular Profiling.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2021Article
- KRAS mutation effects on the 2-[18F]FDG PET uptake of colorectal adenocarcinoma metastases in the liver.EJNMMI research · 2020Article
- The Sensitivity and Specificity of Novel Primers for Detection of BRAFV600E Mutation.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Dissecting Anaplastic Thyroid Carcinoma: A Comprehensive Clinical, Histologic, Immunophenotypic, and Molecular Study of 360 Cases.Thyroid : official journal of the American Thyroid Association · 2020Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
KRAS and BRAF mutations predict the resistance of colorectal carcinomas to therapy targeted to the epidermal growth factor receptor, but their detection can be challenging because of high testing volume, frequently low tumor content, and the spectrum of rarer mutations in these genes. To address these issues, we evaluated a locked nucleic acid (LNA)-PCR sequencing assay to detect low levels of mutant DNA, and we also evaluated a mass spectrometry genotyping assay (Sequenom, San Diego, CA) that is suitable for broad mutation screening. Clinical cases (n = 308) previously tested for KRAS and BRAF by standard sequencing were retested by LNA-PCR sequencing incorporating an LNA oligonucleotide to suppress amplification of nonmutant DNA, and by a Sequenom assay panel targeting common mutations in both genes. Standard sequencing detected 121 KRAS (39%) and 10 BRAF mutations; retesting with the LNA-based method and the Sequenom assay detected 19 (140/308, 45%) and 6 (127/308, 41%) additional KRAS mutants, respectively. One additional BRAF mutant was detected by the Sequenom assay. The analytical sensitivities were 0.3% for both KRAS and BRAF by LNA-PCR and from 1% to 10% for the Sequenom assays, depending on the specific mutation. Given these results, standard sequencing is suboptimal for mutation detection in metastatic and treated lesions even with predissection for tumor enrichment. High-sensitivity LNA-PCR sequencing detects significantly more mutations, whereas the Sequenom platform shows intermediate sensitivity but offers significant advantages for broader mutation screening.
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