Real‐world analysis of the prognostic value of EGFR mutation detection in plasma ctDNA from patients with advanced non‐small cell lung cancer
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Medicine"
DOI: 10.1002/cam4.5582
Abstract: The plasma sample has emerged as a promising surrogate sample for EGFR mutation detection in advanced non‐small cell lung cancer (NSCLC). In clinical practice, whether EGFR variants in baseline plasma ctDNA of advanced NSCLC can… read more here.
Keywords: mutation detection; cancer; non small; egfr mutation ... See more keywords
In Situ Point Mutation Detection in FFPE Colorectal Cancers Using the BaseScope Assay.
Sign Up to like & getrecommendations! Published in 2020 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-0623-0_22
Abstract: In situ mutation detection (ISMD) is a powerful tool for the characterization of tumor heterogeneity at cellular resolution while preserving tissue morphology and spatial context. The BaseScope assay is a novel approach to ISMD, offering… read more here.
Keywords: ffpe colorectal; basescope assay; basescope; mutation detection ... See more keywords
Single-strand specific nuclease enhances accuracy of error-corrected sequencing and improves rare mutation-detection sensitivity.
Sign Up to like & getrecommendations! Published in 2021 at "Archives of toxicology"
DOI: 10.1007/s00204-021-03185-y
Abstract: Error-corrected sequences (ECSs) that utilize double-stranded DNA sequences are useful in detecting mutagen-induced mutations. However, relatively higher frequencies of G:C > T:A (1 × 10-7 bp) and G:C > C:G (2 × 10-7 bp) errors decrease the accuracy of detection of rare G:C mutations (approximately… read more here.
Keywords: detection; error corrected; nuclease; mutation detection ... See more keywords
Microfluidics‐based EGFR mutation detection and its implication in the resource‐limited clinical setting
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Experimental Pathology"
DOI: 10.1111/iep.12503
Abstract: Management of lung cancer today obligates a mutational analysis of the epidermal growth factor receptor (EGFR) gene particularly when Tyrosine Kinase Inhibitor (TKI) therapy is being considered as part of prognostic stratification. This study evaluates… read more here.
Keywords: platform; microfluidics based; egfr mutation; mutation detection ... See more keywords
Key differences between 13 KRAS mutation detection technologies and their relevance for clinical practice
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DOI: 10.1136/esmoopen-2017-000235
Abstract: Click here and here to see the linked articles Introduction This study assessed KRAS mutation detection and functional characteristics across 13 distinct technologies and assays available in clinical practice, in a blinded manner. Methods Five… read more here.
Keywords: mutation detection; kras mutation; clinical practice;
Fast and accurate mutation detection in whole genome sequences of multiple isogenic samples with IsoMut
Sign Up to like & getrecommendations! Published in 2017 at "BMC Bioinformatics"
DOI: 10.1186/s12859-017-1492-4
Abstract: BackgroundDetection of somatic mutations is one of the main goals of next generation DNA sequencing. A wide range of experimental systems are available for the study of spontaneous or environmentally induced mutagenic processes. However, most… read more here.
Keywords: fast accurate; mutation detection; isogenic samples; accurate mutation ... See more keywords
TNER: a novel background error suppression method for mutation detection in circulating tumor DNA
Sign Up to like & getrecommendations! Published in 2018 at "BMC Bioinformatics"
DOI: 10.1186/s12859-018-2428-3
Abstract: BackgroundUltra-deep next-generation sequencing of circulating tumor DNA (ctDNA) holds great promise as a tool for the early detection of cancer and for monitoring disease progression and therapeutic responses. However, the low abundance of ctDNA in… read more here.
Keywords: detection; ctdna; error; mutation detection ... See more keywords
EGFR T790M Mutation Detection in Patients With Non-Small Cell Lung Cancer After First Line EGFR TKI Therapy: Summary of Results in a Three-Year Period and a Comparison of Commercially Available Detection Kits
Sign Up to like & getrecommendations! Published in 2022 at "Pathology and Oncology Research"
DOI: 10.3389/pore.2022.1610607
Abstract: EGFR mutation in non-small cell lung cancer (NSCLC) offers a potential therapeutic target for tyrosine kinase inhibitor (TKI) therapy. The majority of these cases, however eventually develop therapy resistance, mainly by acquiring EGFR T790M mutation.… read more here.
Keywords: mutation detection; t790m mutation; egfr mutation; detection ... See more keywords
TILLING in Cereal Crops for Allele Expansion and Mutation Detection by Using Modern Sequencing Technologies
Sign Up to like & getrecommendations! Published in 2020 at "Agronomy"
DOI: 10.3390/agronomy10030405
Abstract: A substantial increase in yield of food crops is crucial to feeding the burgeoning global population. There is a need to introduce new breeding strategies that will accelerate the average phenotypic values of crop plants.… read more here.
Keywords: tilling cereal; cereal crops; mutation detection; expansion mutation ... See more keywords
Analysis of Colorectal Cancer Gene Mutations and Application of Long Blocker Displacement Amplification Technology for High-Throughput Mutation Detection
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DOI: 10.3390/bios15050308
Abstract: Genetic mutation detection for colorectal cancer (CRC) is crucial for precision diagnosis and treatment, yet current methods often suffer from challenges such as low sensitivity, time consumption, and high costs. In our preliminary bioinformatic analysis… read more here.
Keywords: detection; colorectal cancer; displacement amplification; mutation detection ... See more keywords
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms26115037
Abstract: CLN2 disease (neuronal ceroid lipofuscinosis type 2) is an ultra-rare lysosomal storage disorder caused by mutations in the TPP1/CLN2 gene, resulting in impaired tripeptidyl peptidase 1 (TPP1) activity. The timely initiation of enzyme replacement therapy… read more here.
Keywords: tpp1 mutation; cln2; tpp1; mutation detection ... See more keywords