SNPMiner Trials (Home Page)
Report for Mutation N375S
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Evaluating Mutations in MET and TP53 Among Patients Diagnosed With Squamous Cell Carcinoma
This study focuses on advanced lung and head and neck SCC tumours, with adjacent normal lung tissues. Biopsies will be performed in National University Health System, Singapore (NUHS) as part of participants' standard care. Patient blood was also required for extraction of cell free DNA (cfDNA) and genomic DNA (gDNA). Patients' medical records will also be reviewed for the purpose of this study.
NCT03938012 Squamous Cell Carcinoma of the Lung Squamous Cell Carcinoma of the Head and Neck MeSH:Carcinoma Carcinoma, Squamous Cell Squamous Cell Carcinoma of Head and Neck Lung Neoplasms
HPO:Carcinoma Neoplasm of the lung Squamous cell carcinoma
Customised probes detecting wildtype MET allele or MET-N375S allele are designed to for genotyping (homozygous/heterozygous).. Identification of TP53 mutation using Sanger sequencing. --- N375S ---
FFPE samples retrieved from patients genotyped with MET-N375S polymorphism will be subjected to MET and HER2 testing Abbott PathVysion DNA test kits. --- N375S ---
Primary Outcomes
Description: Germline DNA from the patients will be harvested from whole blood, and the polymorphic MET variant will be determined using ddPCR. Customised probes detecting wildtype MET allele or MET-N375S allele are designed to for genotyping (homozygous/heterozygous).
Measure: Identification of MET mutation using digital droplet PCR (ddPCR) Time: 2 yearsDescription: DNA from the tumour specimens will be harvested for sequencing to identify cases with somatic mutations of TP53 gene. Changes in codon sequences will be reported.
Measure: Identification of TP53 mutation using Sanger sequencing Time: 2 yearsDescription: FFPE samples retrieved from patients genotyped with MET-N375S polymorphism will be subjected to MET and HER2 testing Abbott PathVysion DNA test kits. Data will be analysed with fluorescence microscopy. HER2 amplification will be defined as gene copies versus chromosome 17 polysomy. MET amplification will be defined as gene copies per nucleus.
Measure: Presence of MET and HER2 amplification using fluorescence in situ hybridization (FISH) Time: 2 yearsDescription: PLA will be performed using DUOLINK in situ hybridization. Validation MET and HER2 antibodies will be used for the assay, and signal will be detected with fluorescence microscopy. Detection and quantification of positive signals will determine the presence of MET-HER2 interaction in clinical specimens.
Measure: Interaction of MET and HER2 receptor tyrosine kinases using proximity ligation assay (PLA) Time: 2 yearsDescription: Extracted cfDNA will be subjected to ddPCR using designed probes for MET and TP53 mutations. Copies of cfDNA/1mL of plasma will be reported.
Measure: Cell free DNA (cfDNA) will be extracted from patients' plasma to detect for presence of somatic/germline mutation Time: 2 years