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Somatic mutation analysis represents a useful tool in selecting personalized therapy. The aim of our study was to determine the presence of common genetic events affecting actionable oncogenes using a MassARRAY technology in patients with advanced solid tumors who were potential candidates for target-based therapies. The analysis of 238 mutations across 19 oncogenes was performed in 197 formalin-fixed paraffin-embedded samples of different tumors using the OncoCarta Panel v1.0 (Sequenom Hamburg, Germany). Of the 197 specimens, 97 (49.2%) presented at least one mutation. Forty-nine different oncogenic mutations in 16 genes were detected. Mutations in KRAS and PIK3CA were detected in 40/97 (41.2%) and 30/97 (30.9%) patients respectively. Thirty-one patients (32.0%) had mutations in two genes, 20 of them (64.5%) initially diagnosed with colorectal cancer. The co-occurrence of mutation involved mainly KRAS, PIK3CA, KIT and RET. Mutation profiles were validated using a customized panel and the Junior Next-Generation Sequencing technology (GS-Junior 454, Roche). Twenty-eight patients participated in early clinical trials or received specific treatments according to the molecular characterization (28.0%). MassARRAY technology is a rapid and effective method for identifying key cancer-driving mutations across a large number of samples, which allows for a more appropriate selection for personalized therapies.
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http://dx.doi.org/10.18632/oncotarget.8002 | DOI Listing |
Animals (Basel)
August 2025
The Shennong Laboratory, Zhengzhou 450046, China.
The aim was to investigate the genetic effects of a SNP located in the precursor region of . (1) Single-nucleotide polymorphisms within precursor regions of microRNAs play crucial biological roles. (2) Utilizing a Gushi-Anka F resource population ( = 860), we screened and validated miRNA SNPs.
View Article and Find Full Text PDFEpilepsia
August 2025
Department of Pharmacy, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen, China.
Objective: Adenosine, a purine nucleotide, is implicated in various brain disorders. Our previous study identified a correlation between ADORA2A variants and epilepsy susceptibility. However, it remains unclear whether ADORA2A genetic polymorphisms affect the outcomes of antiseizure medication (ASM) therapy.
View Article and Find Full Text PDFFront Vet Sci
July 2025
State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, China.
Lambing number trait in sheep is a complex trait controlled by multiple genes, and low lambing number has a severe economic impact on the sheep industry. Previous studies have shown that Sparc/Osteonectin, cwcv, and kazal-like domain proteoglycan 1 (), A disintegrin and metalloproteinase with thrombospondin-like repeats 1 (), heparin-binding epidermal growth factor-like growth factor (), and leukemia inhibitory factor receptor () are involved in mammalian reproduction. However, the effects of these genes on lambing number in sheep are still unclear.
View Article and Find Full Text PDFFront Cell Infect Microbiol
July 2025
Institute for Systems Biology, School of Life Sciences, Jianghan University, Wuhan, Hubei, China.
Tuberculosis (TB) remains a major global health threat, with the urgent need for rapid and accurate diagnostic methods to improve control and treatment outcomes. This study evaluates the performance of MassARRAY technology for detecting (MTB) and identifying drug resistance, compared to traditional culture methods and Xpert MTB/RIF. From July 2021 to February 2024, bronchoalveolar lavage fluid (BALF) samples from 289 suspected pulmonary tuberculosis patients at Henan Provincial Chest Hospital, China, were tested using MassARRAY, Xpert MTB/RIF, and conventional culturing techniques.
View Article and Find Full Text PDFHealth Sci Rep
July 2025
Department of Medical Laboratory Science, Faculty of Health Science and Technology Ebonyi State University Abakaliki Nigeria.
Background And Aim: The study assessed the polymorphic distribution of H63D rs1799945 of HFE gene and clinico-hematological parameters of SCA patients.
Methods: Sixty sickle cell anemia (SCA) patients and 30 healthy controls without sickle cell disease between the ages of 2-38 years were selected for this case-control study from March to July, 2023 in the Northern Ghana. Ethylenediaminetetraacetic acid (EDTA)-anticoagulated blood samples were used for complete blood count estimation using a 5-part hematology autoanalyzer (URIT-5250 China).