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Artykuły w czasopismach na temat „Consensus mutation”

Autor: Grafiati

Data publikacji: 1 lutego 2025

Data aktualizacji: 31 lipca 2025

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1

Graña, D., T. Gardella, and M. M. Susskind. "The effects of mutations in the ant promoter of phage P22 depend on context." Genetics 120, no. 2 (1988): 319–27. http://dx.doi.org/10.1093/genetics/120.2.319.

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Abstract Recombination was used to construct 22 two- or three-way combinations of down- and up-mutations in Pant, a strong, near-consensus promoter of phage P22. The relative strengths of these promoters in vivo were assayed by fusing them to an ant/lacZ gene fusion and measuring beta-galactosidase levels produced by lysogens carrying the fusions on single-copy prophages. The results of these assays show that the magnitude of the effect of a promoter mutation can vary considerably when its context is changed by the presence of another mutation. In addition, as Pant approaches conformity with t

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Parikh, Purvish M., J. Wadhwa, S. Minhas, et al. "Practical consensus recommendation on when to do BRCA testing." South Asian Journal of Cancer 07, no. 02 (2018): 106. http://dx.doi.org/10.4103/sajc.sajc_112_18.

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Abstract BRCA-mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists.

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Dong, Baijun, Bin Yang, Yonghong Li, et al. "Insights into Chinese prostate cancer germline gene mutation profile: HOXB13 G84E mutation is unsuitable for genetic testing." Journal of Clinical Oncology 38, no. 15_suppl (2020): e17515-e17515. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e17515.

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e17515 Background: Philadelphia Prostate Cancer Consensus Conference 2017 developed an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA. However, the consensus was mainly based on data from Caucasian populations. Genetic differences in the PC molecular landscape between Asian and Caucasian men have been established. Whether Caucasian-based genetic information can be used to guide clinical practice in Chinese population needs further evidence. Methods: 1123 patients with confirmed prostate cancer admitted from March 2018 to August 2019 from 18 Chin

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Bergeron, Julie, Jose-Mario Capo-Chichi, Hubert Tsui, et al. "The Clinical Utility of FLT3 Mutation Testing in Acute Leukemia: A Canadian Consensus." Current Oncology 30, no. 12 (2023): 10410–36. http://dx.doi.org/10.3390/curroncol30120759.

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FMS-like tyrosine kinase 3 (FLT3) mutations are detected in approximately 20–30% of patients with acute myeloid leukemia (AML), with the presence of a FLT3 internal tandem duplication (FLT3-ITD) mutation being associated with an inferior outcome. Assessment of FLT3 mutational status is now essential to define optimal upfront treatment in both newly diagnosed and relapsed AML, to support post-induction allogeneic hematopoietic stem cell transplantation (alloSCT) decision-making, and to evaluate treatment response via measurable (minimal) residual disease (MRD) evaluation. In view of its importa

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Amar, Laurence, Karel Pacak, Olivier Steichen, et al. "International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers." Nature Reviews Endocrinology 17, no. 7 (2021): 435–44. http://dx.doi.org/10.1038/s41574-021-00492-3.

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AbstractApproximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging

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Breitschwerdt, Sven, Benedikt Grandel, Benedikt Asbach, et al. "Consensus Sequences for Gag and Pol Introduced into HIV-1 Clade B Laboratory Strains Differentially Influence the Impact of Point Mutations Associated with Immune Escape and with Drug Resistance on Viral Replicative Capacity." Viruses 17, no. 6 (2025): 842. https://doi.org/10.3390/v17060842.

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Viral evasion from effective human immunodeficiency virus type 1 (HIV-1)-specific CD8+ T-cell responses and from antiretroviral therapy through viral sequence variation is frequently accompanied by a loss in viral fitness. The impact of sequence variations on replication capacity in vitro was mostly studied by introducing single mutations into a specific clonal strain such as NL4-3. How the specific viral backbone itself impacts replicative fitness remains elusive. To test for a potential effect of the viral backbone, we constructed HIV-1 clade B clones with consensus sequences for gag and/or

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Kipling, D., and S. E. Kearsey. "Reversion of autonomously replicating sequence mutations in Saccharomyces cerevisiae: creation of a eucaryotic replication origin within procaryotic vector DNA." Molecular and Cellular Biology 10, no. 1 (1990): 265–72. http://dx.doi.org/10.1128/mcb.10.1.265-272.1990.

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To investigate how a defective replicon might acquire replication competence, we have studied the reversion of autonomously replicating sequence (ARS) mutations. By mutagenesis of a Saccharomyces cerevisiae plasmid lacking a functional origin of replication, we have obtained a series of cis-acting mutations which confer ARS activity on the plasmid. The original plasmid contained an ARS element inactivated by point mutation, but surprisingly only 1 of the 10 independent Ars+ revertants obtained shows a back mutation in this element. In the remainder of the revertants, sequence changes in the M1

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Kipling, D., and S. E. Kearsey. "Reversion of autonomously replicating sequence mutations in Saccharomyces cerevisiae: creation of a eucaryotic replication origin within procaryotic vector DNA." Molecular and Cellular Biology 10, no. 1 (1990): 265–72. http://dx.doi.org/10.1128/mcb.10.1.265.

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To investigate how a defective replicon might acquire replication competence, we have studied the reversion of autonomously replicating sequence (ARS) mutations. By mutagenesis of a Saccharomyces cerevisiae plasmid lacking a functional origin of replication, we have obtained a series of cis-acting mutations which confer ARS activity on the plasmid. The original plasmid contained an ARS element inactivated by point mutation, but surprisingly only 1 of the 10 independent Ars+ revertants obtained shows a back mutation in this element. In the remainder of the revertants, sequence changes in the M1

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9

Baer, Constance Regina, Niroshan Nadarajah, Claudia Haferlach, Wolfgang Kern, and Torsten Haferlach. "The Use of Unique Molecular Identifiers (UMIs) Strongly Improves Sequencing Detection Limits Allowing Earlier Detection of Small TP53 Mutated Clones in Leukemias." Blood 128, no. 22 (2016): 2027. http://dx.doi.org/10.1182/blood.v128.22.2027.2027.

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Abstract Background: TP53 mutations arise in a broad set of hematologic diseases and are associated with poor prognosis and therapy failure. Even small TP53 mutated clones were demonstrated to be of clinical relevance and therefore their early detection is mandatory. Mutations can occur throughout the entire gene (mainly exons 4-10) and include base exchanges, deletions and insertions. Next generation sequencing (NGS) generally detects mutations, which are present in at least 3% of sequences. The detection of mutations at burdens below 3% is still hampered by polymerase and sequencing errors.

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10

Yuryev, Anton, and Jeffry L. Corden. "Suppression Analysis Reveals a Functional Difference Between the Serines in Positions Two and Five in the Consensus Sequence of the C-Terminal Domain of Yeast RNA Polymerase II." Genetics 143, no. 2 (1996): 661–71. http://dx.doi.org/10.1093/genetics/143.2.661.

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Abstract The largest subunit of RNA polymerase II contains a repetitive C-terminal domain (CTD) consisting of tandem repeats of the consensus sequence TyrlSer2Pro3Thr4Ser5Pro6Ser7. Substitution of nonphosphe rylatable amino acids at positions two or five of the Saccharomyces cerevisiae CTD is lethal. We developed a selection ssytem for isolating suppressors of this lethal phenotype and cloned a gene, SCA1 (suppressor of CTD alanine), which complements recessive suppressors of lethal multiple-substitution mutations. A partial deletion of SCA1 (sca1Δ::hisG) suppresses alanine or glutamate substi

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11

Ahn, Eun Hyun, and Seung Hyuk Lee. "Detection of Low-Frequency Mutations and Identification of Heat-Induced Artifactual Mutations Using Duplex Sequencing." International Journal of Molecular Sciences 20, no. 1 (2019): 199. http://dx.doi.org/10.3390/ijms20010199.

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We present a genome-wide comparative and comprehensive analysis of three different sequencing methods (conventional next generation sequencing (NGS), tag-based single strand sequencing (e.g., SSCS), and Duplex Sequencing for investigating mitochondrial mutations in human breast epithelial cells. Duplex Sequencing produces a single strand consensus sequence (SSCS) and a duplex consensus sequence (DCS) analysis, respectively. Our study validates that although high-frequency mutations are detectable by all the three sequencing methods with the similar accuracy and reproducibility, rare (low-frequ

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12

Wong, C., SE Antonarakis, SC Goff, et al. "Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene." Blood 73, no. 4 (1989): 914–18. http://dx.doi.org/10.1182/blood.v73.4.914.914.

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Abstract We have identified two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 and IVS-2/exon 3 junctions of the human beta-globin gene. Both mutations are single nt substitutions, T to G and C to A, at position -3 adjacent to the invariant AG dinucleotide. For the IVS- 2/exon 3 mutation abnormal splicing into the cryptic splice site at IVS- 2 nt 579 is documented. Identification of these two mutations provides further support for the importance of the location of specific nucleotides within the consensus sequences

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Wong, C., SE Antonarakis, SC Goff, et al. "Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene." Blood 73, no. 4 (1989): 914–18. http://dx.doi.org/10.1182/blood.v73.4.914.bloodjournal734914.

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We have identified two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 and IVS-2/exon 3 junctions of the human beta-globin gene. Both mutations are single nt substitutions, T to G and C to A, at position -3 adjacent to the invariant AG dinucleotide. For the IVS- 2/exon 3 mutation abnormal splicing into the cryptic splice site at IVS- 2 nt 579 is documented. Identification of these two mutations provides further support for the importance of the location of specific nucleotides within the consensus sequences in splic

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14

Jaravine, Victor, James Balmford, Patrick Metzger, Melanie Boerries, Harald Binder, and Martin Boeker. "Annotation of Human Exome Gene Variants with Consensus Pathogenicity." Genes 11, no. 9 (2020): 1076. http://dx.doi.org/10.3390/genes11091076.

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A novel approach is developed to address the challenge of annotating with phenotypic effects those exome variants for which relevant empirical data are lacking or minimal. The predictive annotation method is implemented as a stacked ensemble of supervised base-learners, including distributed random forest and gradient boosting machines. Ensemble models were trained and cross-validated on evidence-based categorical variant effect annotations from the ClinVar database, and were applied to 84 million non-synonymous single nucleotide variants (SNVs). The consensus model combined 39 functional muta

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Zhao, Linjie, Tanlin Sun, Jianfeng Pei, and Qi Ouyang. "Mutation-induced protein interaction kinetics changes affect apoptotic network dynamic properties and facilitate oncogenesis." Proceedings of the National Academy of Sciences 112, no. 30 (2015): E4046—E4054. http://dx.doi.org/10.1073/pnas.1502126112.

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It has been a consensus in cancer research that cancer is a disease caused primarily by genomic alterations, especially somatic mutations. However, the mechanism of mutation-induced oncogenesis is not fully understood. Here, we used the mitochondrial apoptotic pathway as a case study and performed a systematic analysis of integrating pathway dynamics with protein interaction kinetics to quantitatively investigate the causal molecular mechanism of mutation-induced oncogenesis. A mathematical model of the regulatory network was constructed to establish the functional role of dynamic bifurcation

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Rogozin, Igor, Abiel Roche-Lima, Artem Lada, et al. "Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer Genomes." Cancers 11, no. 2 (2019): 211. http://dx.doi.org/10.3390/cancers11020211.

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Cancer genomes accumulate nucleotide sequence variations that number in the tens of thousands per genome. A prominent fraction of these mutations is thought to arise as a consequence of the off-target activity of DNA/RNA editing cytosine deaminases. These enzymes, collectively called activation induced deaminase (AID)/APOBECs, deaminate cytosines located within defined DNA sequence contexts. The resulting changes of the original C:G pair in these contexts (mutational signatures) provide indirect evidence for the participation of specific cytosine deaminases in a given cancer type. The conventi

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Abdelfatah, Rana G., Salma A. Shawkat, and Menna A. Aly. "The presence of splicing factor 3b subunit 1 and tumor protein 53 Co-Mutation in myelodysplastic syndrome patients and its impact on disease presentation, the initial response to treatment and international prognostic scoring system classification." Egyptian Journal of Haematology 49, no. 3 (2024): 311–17. https://doi.org/10.4103/ejh.ejh_40_24.

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Background Contrary to expectations, patients diagnosed with myelodysplastic syndrome and harboring mutations in tumor protein 53 (TP53) are reported to have an unfavorable prognosis when it comes to splicing factor 3b subunit 1 (SF3B1) mutations. The clinical implications of an SF3B1 and TP53 mutation combined remain even more ambiguous. The present study aimed to compare the clinical outcomes of concurrent double SF3B1/TP53 mutation with those of isolated SF3B1 or TP53 mutations. Our study aims to assess the clinical implications of concurrent double mutations of SF3B1 and TP53 compared with

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Scherer, Florian, Cristina Bertinetti-Lapatki, Marcus Duehren-von Minden, Joachim Boehm, and Hendrik J. Veelken. "Quantitative Analysis of AID Expression and Somatic Hypermutation Identifies Isotype-Switched and Non-Switched Follicular Lymphomas As Distinct Biological Subgroups,." Blood 118, no. 21 (2011): 3666. http://dx.doi.org/10.1182/blood.v118.21.3666.3666.

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Abstract Abstract 3666 Introduction: Activation-induced cytidine deaminase (AID) is essential for somatic hypermutation (SHM) and class switch recombination (CSR) in B cells. Deamination of cytosine residues by AID leads to double-strand breaks and point mutations in immunoglobulin (Ig) genes by subsequent mechanisms. Physiological AID expression is tightly regulated and restricted to germinal center (GC) B cells. AID acts not exclusively on Ig loci but effects aberrant SHM (ASHM) throughout the genome (Liu et al., 2008). High-fidelity mutation repair mechanisms protect most non-Ig AID target

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Thunnissen, Erik, Judith V. M. G. Bovée, Hans Bruinsma, et al. "EGFR and KRAS quality assurance schemes in pathology: generating normative data for molecular predictive marker analysis in targeted therapy." Journal of Clinical Pathology 64, no. 10 (2011): 884–92. http://dx.doi.org/10.1136/jclinpath-2011-200163.

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IntroductionThe aim of this study was to compare the reproducibility of epidermal growth factor receptor (EGFR) immunohistochemistry (IHC), EGFR gene amplification analysis, and EGFR and KRAS mutation analysis among different laboratories performing routine diagnostic analyses in pathology in The Netherlands, and to generate normative data.MethodsIn 2008, IHC, in-situ hybridisation (ISH) for EGFR, and mutation analysis for EGFR and KRAS were tested. Tissue microarray sections were distributed for IHC and ISH, and tissue sections and isolated DNA with known mutations were distributed for mutati

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Gandy, Lisa M., Jordan Gumm, Amanda L. Blackford, Elana J. Fertig, and Luis A. Diaz. "A Software Application for Mining and Presenting Relevant Cancer Clinical Trials per Cancer Mutation." Cancer Informatics 16 (January 1, 2017): 117693511771194. http://dx.doi.org/10.1177/1176935117711940.

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ClinicalTrials.org is a popular portal which physicians use to find clinical trials for their patients. However, the current setup of ClinicalTrials.org makes it difficult for oncologists to locate clinical trials for patients based on mutational status. We present CTMine, a system that mines ClinicalTrials.org for clinical trials per cancer mutation and displays the trials in a user-friendly Web application. The system currently lists clinical trials for 6 common genes (ALK, BRAF, ERBB2, EGFR, KIT, and KRAS). The current machine learning model used to identify relevant clinical trials focusin

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Palladino, F., and H. L. Klein. "Analysis of mitotic and meiotic defects in Saccharomyces cerevisiae SRS2 DNA helicase mutants." Genetics 132, no. 1 (1992): 23–37. http://dx.doi.org/10.1093/genetics/132.1.23.

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Abstract The hyper-gene conversion srs2-101 mutation of the SRS2 DNA helicase gene of Saccharomyces cerevisiae has been reported to suppress the UV sensitivity of rad18 mutants. New alleles of SRS2 were recovered using this suppressor phenotype. The alleles have been characterized with respect to suppression of rad18 UV sensitivity, hyperrecombination, reduction of meiotic viability, and definition of the mutational change within the SRS2 gene. Variability in the degree of rad18 suppression and hyperrecombination were found. The alleles that showed the severest effects were found to be missens

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Rozen, F., J. Pelletier, H. Trachsel, and N. Sonenberg. "A lysine substitution in the ATP-binding site of eucaryotic initiation factor 4A abrogates nucleotide-binding activity." Molecular and Cellular Biology 9, no. 9 (1989): 4061–63. http://dx.doi.org/10.1128/mcb.9.9.4061-4063.1989.

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Eucaryotic initiation factor 4A (eIF-4A) is a member of a family of proteins believed to be involved in the ATP-dependent melting of RNA secondary structure. These proteins contain a derivative of the consensus ATP-binding site AXXGXGKT. To assess the importance of the consensus amino acid sequence in eIF-4A for ATP binding, we mutated the consensus amino-proximal glycine and lysine to isoleucine and asparagine, respectively. The effect of the mutations was examined by UV-induced cross-linking of [alpha-32P]dATP to eIF-4A. Mutation of the lysine residue (but not of the glycine residue) resulte

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Rozen, F., J. Pelletier, H. Trachsel, and N. Sonenberg. "A lysine substitution in the ATP-binding site of eucaryotic initiation factor 4A abrogates nucleotide-binding activity." Molecular and Cellular Biology 9, no. 9 (1989): 4061–63. http://dx.doi.org/10.1128/mcb.9.9.4061.

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Eucaryotic initiation factor 4A (eIF-4A) is a member of a family of proteins believed to be involved in the ATP-dependent melting of RNA secondary structure. These proteins contain a derivative of the consensus ATP-binding site AXXGXGKT. To assess the importance of the consensus amino acid sequence in eIF-4A for ATP binding, we mutated the consensus amino-proximal glycine and lysine to isoleucine and asparagine, respectively. The effect of the mutations was examined by UV-induced cross-linking of [alpha-32P]dATP to eIF-4A. Mutation of the lysine residue (but not of the glycine residue) resulte

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Yaung, Stephanie J., Jian Li, Adeline Pek, Lili Niu, John F. Palma, and Maximilian Schmid. "Evaluation of a regularly updated knowledge base for curation of somatic mutations detected in whole exomes of melanoma and lung, colorectal, and breast cancers." Journal of Clinical Oncology 38, no. 15_suppl (2020): e14072-e14072. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e14072.

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e14072 Background: Evolving medical guidelines and complex multi-variant data from next-generation sequencing (NGS) testing of cancer samples make routine clinical interpretation of somatic variants challenging. We assessed the ability of NAVIFY(R) Mutation Profiler*, a CE-IVD somatic variant interpretation tool, to yield accurate time- and geography-specific clinical content on 2511 samples from The Cancer Genome Atlas (TCGA) across six solid tumor types. Methods: Whole exomes from lung adenocarcinoma (n = 469), lung squamous cell carcinoma (n = 325), colon adenocarcinoma (n = 368), rectum ad

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Anna, Abramowicz, and Gos Monika. "Splicing mutations in human genetic disorders: examples, detection, and confirmation." Journal of Applied Genetics 59, no. 3 (2018): 253–68. http://dx.doi.org/10.1007/s13353-018-0444-7.

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Abstract Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing regulatory sequences (intronic and exonic splicing silencers and enhancers), create new ones, o

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Budczies, Jan, Eva Romanovsky, Klaus Kluck, et al. "Abstract 2607: Homogenous TP53mut-associated tumor biology across mutation and cancer types revealed by comprehensive mRNA expression analysis." Cancer Research 83, no. 7_Supplement (2023): 2607. http://dx.doi.org/10.1158/1538-7445.am2023-2607.

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Abstract TP53 mutations are the most common single gene alteration in human cancer with diagnostic and prognostic implications in some cancer types. While no TP53-targeting therapeutics have been approved in the USA or Europe yet, drugs tailored to specific TP53 mutations, restoring the functionality of mutated TP53 (TP53mut), and protecting TP53 from negative regulation are being explored in preclinical studies and clinical trials. We performed a comprehensive mRNA expression analysis in 24 cancer types of the TCGA to extract (i) a consensus expression signature shared across TP53 mutation ty

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McGowan, Francis. "Services de base et libéralisation : un consensus en mutation." L Economie politique 24, no. 4 (2004): 59. http://dx.doi.org/10.3917/leco.024.0059.

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Hamza, Noha M., Daryl L. Essam, and Ruhul A. Sarker. "Constraint Consensus Mutation-Based Differential Evolution for Constrained Optimization." IEEE Transactions on Evolutionary Computation 20, no. 3 (2016): 447–59. http://dx.doi.org/10.1109/tevc.2015.2477402.

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Goode, David L., Sally M. Hunter, Maria A. Doyle, et al. "A simple consensus approach improves somatic mutation prediction accuracy." Genome Medicine 5, no. 9 (2013): 90. http://dx.doi.org/10.1186/gm494.

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Nakahara, Yoshifumi, Hajime Tsuji, Katsumi Nakagawa, et al. "Genetic Analysis in Japanese Kindreds of Congenital Type I Antithrombin Deficiency Causing Thrombosis." Thrombosis and Haemostasis 77, no. 04 (1997): 616–19. http://dx.doi.org/10.1055/s-0038-1656021.

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SummaryWe have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanease kindreds with congenital type I antithrombin deficiency. The deletion detected in case 1 represented a symmetric element (CTCTGTCTC) and possessed a direct repeat (CTCTATGTCTC). The deletion in case 2 was recognized in a consensus sequence (TGAAT) and possessed a direct

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Kara, Osman, and Tayfun Elibol. "Two cases of Chronic Neutrophilic Leukemia were successfully treated with Allogeneic Stem Cell Transplantation." Medical Science and Discovery 9, no. 6 (2022): 375–77. http://dx.doi.org/10.36472/msd.v9i6.750.

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Objective: Chronic Neutrophilic Leukemia (CNL) is a rarely seen myeloproliferative neoplasia (MPN) in which the BCR-ABL1 gene mutation is negative, and is characterized by persistent neutrophilic proliferation in the bloodstream and granulocytic hyperplasia in the bone marrow. CNL is usually diagnosed incidentally in asymptomatic individuals with persistent neutrophilic leukocytosis. When genetically examined, BCR-ABL1 fusion gene, JAK-2 V617F, and exon12 mutations, CALR mutations, PDGFRA-B, FGRF1 mutations are all not detected, while CSF3R mutation is observed in most of the cases. The WHO-20

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Wang, Tao-Yeuan, and Chi-Kuan Chen. "Identification of real-time PCR-negative EGFR mutations by direct sequencing test." Journal of Clinical Oncology 31, no. 15_suppl (2013): e22118-e22118. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e22118.

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e22118 Background: High percentage of patients with non-small cell lung cancer (NSCLC) has EGFR activating mutations in Taiwan and responses to EGFR inhibitors such as Tarceva (1, 2, 3). Timely molecular diagnosis is critical and molecular testing should be performed before treatment for the individual patient. It is important to develop an effective molecular diagnostic method for accurately detecting mutations and preventing false positive results. Therefore, we used a universal genetic detecting method (FemtoPath) to increase sensitivity of gene mutation detection and improve the sensitivit

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Moss, Tyler J., Yuan Qi, Liu Xi, et al. "Comprehensive genomic characterization of upper tract urothelial carcinoma (UTUC)." Journal of Clinical Oncology 35, no. 6_suppl (2017): 375. http://dx.doi.org/10.1200/jco.2017.35.6_suppl.375.

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375 Background: Integrated analysis of UTUC was performed to characterize the genomic landscape of UTUC and provide insights into biology. Methods: 31 untreated samples underwent WES, RNAseq, and RPPA. Consensus mutation calls from independent pipelines of 2 centers identified gene expression clusters using unsupervised consensus hierarchical clustering (UCHC). Results: Clinical data are shown in the Table. WES identified mutations in FGFR3 (74.1%; 92% low grade, 60% high grade), KMT2D (44.4%), PIK3CA (25.9%), TP53 (22.2%). APOBEC and CpG signatures were identified. Expressed marker genes from

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CAPRIOLI, JESSICA, PAOLA BETTINAGLIO, PETER F. ZIPFEL, et al. "The Molecular Basis of Familial Hemolytic Uremic Syndrome: Mutation Analysis of Factor H Gene Reveals a Hot Spot in Short Consensus Repeat 20." Journal of the American Society of Nephrology 12, no. 2 (2001): 297–307. http://dx.doi.org/10.1681/asn.v122297.

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Abstract. The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP. PCR and Western blot analyses were conducted to characterize the biochemical consequences of the mutations. Five mutations in the factor H gene were identified. Three, identified in two families and in a sporadic case, are heterozygous point mutations within the most C-terminal short consensus r

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Press, Richard D., Stephanie G. Willis, Jennifer Laudadio, Michael J. Mauro, and Michael W. N. Deininger. "Determining the rise in BCR-ABL RNA that optimally predicts a kinase domain mutation in patients with chronic myeloid leukemia on imatinib." Blood 114, no. 13 (2009): 2598–605. http://dx.doi.org/10.1182/blood-2008-08-173674.

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AbstractIn imatinib-treated chronic myeloid leukemia (CML), secondary drug resistance is often caused by mutations in the BCR-ABL kinase domain (KD). As alternative therapies are available for imatinib resistance, early identification of mutations may prevent disease progression. Because most patients are routinely monitored by BCR-ABL quantitative polymerase chain reaction (PCR), it is important to define the optimal increase in BCR-ABL that should trigger mutation testing. Expert panels have provisionally recommended a 10-fold BCR-ABL increase as the trigger for mutation screening, acknowled

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McGlennen, Ronald C., and Nigel S. Key. "Clinical and Laboratory Management of the Prothrombin G20210A Mutation." Archives of Pathology & Laboratory Medicine 126, no. 11 (2002): 1319–25. http://dx.doi.org/10.5858/2002-126-1319-calmot.

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Abstract Objective.—To make recommendations regarding the appropriate evaluation for the prothrombin G20210A mutation, as reflected by published evidence and the consensus opinion of recognized experts in the field. Data Sources.—Review of the medical literature, primarily since 1996. Data Extraction and Synthesis.—After an initial assessment of the literature, key points defining the condition, and review of the clinical study design, a draft manuscript was prepared and circulated to every participant in the College of American Pathologists Conference on Diagnostic Issues in Thrombophilia bef

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Malhotra, Hemant, Pradnya Kowtal, Nikita Mehra, et al. "Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology." JCO Global Oncology, no. 6 (September 2020): 991–1008. http://dx.doi.org/10.1200/jgo.19.00381.

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PURPOSE Hereditary breast and ovarian cancer (HBOC) syndrome is primarily characterized by mutations in the BRCA1/2 genes. There are several barriers to the implementation of genetic testing and counseling in India that may affect clinical decisions. These consensus recommendations were therefore convened as a collaborative effort to improve testing and management of HBOC in India. DESIGN Recommendations were developed by a multidisciplinary group of experts from the Indian Society of Medical and Pediatric Oncology and some invited experts on the basis of graded evidence from the literature an

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Prashantha Karunakar, Padmini Arunkumar, Kumar Sankaran, and Shivangi Naik. "Predicting Pathogenic Missense Mutations in the Human c-MET Oncogene Using a Nucleotide Scoring Functio." International Journal of Fundamental and Applied Sciences (IJFAS) 7, no. 4 (2018): 73–76. http://dx.doi.org/10.59415/ijfas.v7i4.127.

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Background: Many nucleotide variations in the human genome remain uncharacterized even more than ten years after the first draft was published. Objective: A three-parameter nucleotide-based scoring function was designed to predict the possible pathogenicity of 163 uncharacterized but validated missense mutations of the c-MET oncogene. Methodology: The parameters used by the scoring function were: surrounding consensus regions in a multiple sequence alignment of the human c-MET oncogene and five orthologous variants, inter-species allele frequency of each human missense mutation, and the nature

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Xu, Chunwei, Bin Lian, Juanjuan Ou, et al. "Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors." Global Medical Genetics 11, no. 04 (2024): 330–43. http://dx.doi.org/10.1055/s-0044-1790230.

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AbstractThe fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, and mutation, can disrupt epigenetics, transcriptional regulation, and tumor microenvironment interactions, leading to cancer development. Targeting these kinase mutations with small molecule drugs or antibodies has shown clinical benefits. For example, erdafitinib is approved for treating locally advanced or metastatic urothelial cancer patients wit

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Schaffner, Claudia, Stephan Stilgenbauer, Gudrun A. Rappold, Hartmut Döhner, and Peter Lichter. "Somatic ATM Mutations Indicate a Pathogenic Role of ATM in B-Cell Chronic Lymphocytic Leukemia." Blood 94, no. 2 (1999): 748–53. http://dx.doi.org/10.1182/blood.v94.2.748.

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Abstract Deletion in chromosome bands 11q22-q23 is one of the most common chromosome aberrations in B-cell chronic lymphocytic leukemia (B-CLL). It is associated with extensive lymph node involvement and poor survival. The minimal consensus deletion comprises a segment, which contains the ATM gene presenting an interesting candidate gene, as mutations in ATM predispose A-T patients to lymphoid malignancies. To investigate a potential pathogenic role of ATM in B-cell tumorigenesis, we performed mutation analysis of ATM in 29 malignant lymphomas of B-cell origin (B-CLL = 27; mantle cell lymphoma

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Schaffner, Claudia, Stephan Stilgenbauer, Gudrun A. Rappold, Hartmut Döhner, and Peter Lichter. "Somatic ATM Mutations Indicate a Pathogenic Role of ATM in B-Cell Chronic Lymphocytic Leukemia." Blood 94, no. 2 (1999): 748–53. http://dx.doi.org/10.1182/blood.v94.2.748.414k02_748_753.

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Deletion in chromosome bands 11q22-q23 is one of the most common chromosome aberrations in B-cell chronic lymphocytic leukemia (B-CLL). It is associated with extensive lymph node involvement and poor survival. The minimal consensus deletion comprises a segment, which contains the ATM gene presenting an interesting candidate gene, as mutations in ATM predispose A-T patients to lymphoid malignancies. To investigate a potential pathogenic role of ATM in B-cell tumorigenesis, we performed mutation analysis of ATM in 29 malignant lymphomas of B-cell origin (B-CLL = 27; mantle cell lymphoma, [MCL] =

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Kwong, Ava, Cecilia Yuen Sze Ho, Chun Hang Au, Sze Keong Tey, and Edmond Shiu Kwan Ma. "Germline RAD51C and RAD51D Mutations in High-Risk Chinese Breast and/or Ovarian Cancer Patients and Families." Journal of Personalized Medicine 14, no. 8 (2024): 866. http://dx.doi.org/10.3390/jpm14080866.

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Background: RAD51C and RAD51D are crucial in homologous recombination (HR) DNA repair. The prevalence of the RAD51C and RAD51D mutations in breast cancer varies across ethnic groups. Associations of RAD51C and RAD51D germline pathogenic variants (GPVs) with breast and ovarian cancer predisposition have been recently reported and are of interest. Methods: We performed multi-gene panel sequencing to study the prevalence of RAD51C and RAD51D germline mutations among 3728 patients with hereditary breast and/or ovarian cancer (HBOC). Results: We identified 18 pathogenic RAD51C and RAD51D mutation c

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Wang, Weicheng, Rui Wang, Xiao Han, Wei Zhang, Lijun Zhu, and Yanhong Gu. "Epidemiological and clinicopathological features of KRAS, NRAS, BRAF mutations and MSI in Chinese patients with stage I–III colorectal cancer." Medicine 103, no. 14 (2024): e37693. http://dx.doi.org/10.1097/md.0000000000037693.

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The selection of appropriate treatment modalities based on the presence or absence of mutations in KRAS, NRAS, BRAF, and the microsatellite instability (MSI) status has become a crucial consensus in colorectal cancer (CRC) therapy. However, the distribution pattern of these genetic mutations and the prevalence of MSI status in Chinese stage I–III CRCs remain unclear. We retrospectively analyzed clinicopathological features, mutations in the KRAS, NRAS, and BRAF genes, as well as MSI status of 411 patients with stage I–III CRC who underwent surgery from June 2020 to December 2022 in the First A

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Carothers, A. M., G. Urlaub, D. Grunberger, and L. A. Chasin. "Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells." Molecular and Cellular Biology 13, no. 8 (1993): 5085–98. http://dx.doi.org/10.1128/mcb.13.8.5085-5098.1993.

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Point mutants induced with a variety of mutagens at the dihydrofolate reductase (dhfr) locus in Chinese hamster ovary (CHO) cells were screened for aberrantly spliced dhfr mRNA by RNase protection and/or reverse transcriptase coupled with cDNA amplification by the polymerase chain reaction (PCR). Of 115 mutants screened, 28 were found to be affected in splicing. All exhibited less than 1% correct splicing, probably because the selection procedure was stringent. All 26 unique mutations were located within the consensus splice sequences; changes were found at 9 of 10 possible sites in this 25-kb

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Carothers, A. M., G. Urlaub, D. Grunberger, and L. A. Chasin. "Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells." Molecular and Cellular Biology 13, no. 8 (1993): 5085–98. http://dx.doi.org/10.1128/mcb.13.8.5085.

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Point mutants induced with a variety of mutagens at the dihydrofolate reductase (dhfr) locus in Chinese hamster ovary (CHO) cells were screened for aberrantly spliced dhfr mRNA by RNase protection and/or reverse transcriptase coupled with cDNA amplification by the polymerase chain reaction (PCR). Of 115 mutants screened, 28 were found to be affected in splicing. All exhibited less than 1% correct splicing, probably because the selection procedure was stringent. All 26 unique mutations were located within the consensus splice sequences; changes were found at 9 of 10 possible sites in this 25-kb

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Rohlfs, Elizabeth M., William G. Learning, Kenneth J. Friedman, Fergus J. Couch, Barbara L. Weber, and Lawrence M. Silverman. "Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis." Clinical Chemistry 43, no. 1 (1997): 24–29. http://dx.doi.org/10.1093/clinchem/43.1.24.

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Abstract The tumor suppressor genes BRCA1 and BRCA2, which confer increased susceptibility to breast and (or) ovarian cancer, were recently identified. Mutation analysis of BRCA1 has demonstrated significant allelic heterogeneity; however, some distinct mutations have been detected in unrelated individuals. The most notable is the 185delAG mutation, which occurs at an estimated frequency of ∼1% in individuals of Ashkenazi Jewish descent [1]. Although consensus has not been reached regarding clinical testing for mutations in BRCA1, a tiered strategy may be appropriate, in which direct testing f

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Armstrong, Kimberly L., Tun-Hou Lee, and M. Essex. "Replicative Fitness Costs of Nonnucleoside Reverse Transcriptase Inhibitor Drug Resistance Mutations on HIV Subtype C." Antimicrobial Agents and Chemotherapy 55, no. 5 (2011): 2146–53. http://dx.doi.org/10.1128/aac.01505-10.

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ABSTRACTSingle-dose nevirapine (NVP) is quite effective in preventing transmission of the human immunodeficiency virus (HIV) from mother to child; however, many women develop resistance to NVP in this setting. Comparing outcomes of clinical studies reveals an increased amount of resistance in subtype C relative to that in other subtypes. This study investigates how nonnucleoside reverse transcriptase inhibitor (NNRTI) drug resistance mutations of subtype C affect replication capacity. The 103N, 106A, 106M, 181C, 188C, 188L, and 190A drug resistance mutations were placed in a reverse transcript

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Weinberg, Olga K., Frank Kuo, and Katherine R. Calvo. "Germline Predisposition to Hematolymphoid Neoplasia." American Journal of Clinical Pathology 152, no. 3 (2019): 258–76. http://dx.doi.org/10.1093/ajcp/aqz067.

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Abstract Objectives The 2017 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review clinical cases with germline predisposition to hematolymphoid neoplasms. Methods The Workshop Panel reviewed 51 cases with germline mutations and rendered consensus diagnoses. Of these, six cases were presented at the meeting by the submitting pathologists. Results The cases submitted to the session covering germline predisposition included 16 cases with germline GATA2 mutations, 10 cases with germline RUNX1 mutations, two cases with germline CEBPA mutations, two g

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Berends, Maran J. W., Ying Wu, Rolf H. Sijmons, et al. "Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis." Journal of Clinical Oncology 21, no. 23 (2003): 4364–70. http://dx.doi.org/10.1200/jco.2003.04.094.

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Purpose: To determine the frequency of mismatch repair (MMR) gene germline mutations in endometrial cancer patients who were diagnosed at less than 50 years of age; to relate the presence of mutations to family history, histopathologic data, presence of tumor microsatellite instability (MSI), and immunostaining; and to formulate criteria for genetic testing in these patients. Patients and Methods: Endometrial cancer patients (N = 58), who were diagnosed at less than 50 years of age, were included and questioned about their family history. Mutation analysis of the MLH1, MSH2, and MSH6 genes was

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Edworthy, Nicole L., and Andrew J. Easton. "Mutational analysis of the avian pneumovirus conserved transcriptional gene start sequence identifying critical residues." Journal of General Virology 86, no. 12 (2005): 3343–47. http://dx.doi.org/10.1099/vir.0.81352-0.

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Seven of the eight genes in the avian pneumovirus (APV) genome contain a conserved 9 nt transcriptional start sequence with the virus large (L) polymerase gene differing from the consensus at three positions. The sequence requirements of the APV transcriptional gene start sequence were investigated by generating a series of mutations in which each of the nine conserved bases was mutated to each of the other three possible nucleotides in a minigenome containing two reporter genes. The effect of each mutation was assessed by measuring the relative levels of expression from the altered and unalte

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