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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 years

Description: 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 years

Description: 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 years

Description: 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 years

Description: 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


HPO Nodes


Squamous cell carcinoma
Genes 79
COL7A1 WNT10A CDKN2A GJB6 FDPS LZTS1 GTF2H5 TERT NLRP1 ERCC5 NUTM1 ERCC2 RSPO1 LAMA3 TMC8 CTSC ING1 RECQL4 GJB2 ERCC2 TGFBR2 ERCC4 LAMC2 LAMB3 MPLKIP TARS1 ERCC3 XPC DOCK8 BLM NTHL1 TYR PSENEN WRAP53 GTF2E2 IL7 RNF6 SLC17A9 TNFRSF10B DKC1 POLH RECQL4 BLM BRD4 KRT5 TMC6 TERC ERCC2 SASH1 WNT10A MC1R CIB1 SLC45A2 MVD WRN KRT14 DDB2 RNF113A DCC FERMT1 TYR COL7A1 ERCC3 ERCC3 COL7A1 MMP1 COL7A1 GJB2 SLX4 MMP1 LMNA MVK TINF2 WWOX GJB2 OCA2 CIB1 POLH STAT1
Carcinoma
Genes 16
POLE MSH2 DKC1 SMARCA4 NLRP1 POLD1 CDKN1B MLH1 RSPO1 FGFR3 BCL10 APC STK11 PTEN APC KIT
Neoplasm of the lung
Genes 61
REST GPC3 WT1 HPGD BRAF PIK3CA TP53 TRIM28 RB1 TRIP13 SLCO2A1 AKT1 CASP8 KRAS TSC1 POU6F2 EWSR1 PRKN LMNA NAB2 TERT TSC2 SLC22A18 BRCA2 PPP2R1B STAT6 STK11 MUC5B ERBB2 TSC2 MBTPS2 BAP1 TSC2 DICER1 PDGFRB PERP EGFR TSC1 DIS3L2 NOTCH3 KEAP1 DICER1 DICER1 WT1 TSC1 C11ORF95 IRF1 CYP2A6 WRN RELA WT1 PTEN SFTPC SFTPA2 ERCC6 TRPV3 TP53 H19 TRIM28 FASLG MAP3K8