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Report for Clinical Trial NCT03122366

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

TLR4 Polymorphisms and Predisposition for Skin Cancer Development

Toll-like receptors (TLRs) play a key role in the innate immune system. Toll-like receptor-4 (TLR4) in particular, appears to play a role in susceptibility to cancer. Of 44 identified SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene. Pre-clinical studies from our laboratory have shown an association of TLR4 with ultraviolet radiation induced skin cancer. Hence, in this study we will assess the pattern of TLR4 polymorphisms and susceptibility to skin cancer.

NCT03122366 Skin Cancer
MeSH: Skin Neoplasms
HPO: Neoplasm of the skin

1 Interventions

Name: Detection of single nucleotide polymorphisms (SNP)

Description: Asp299Gly SNP in the third exon of the TLR4 gene will be detected in blood

Type: Diagnostic Test


Primary Outcomes

Description: TLR4 SNP Asp299Gly

Measure: single nucleotide polymorphism

Time: once during the course of study

Time Perspective: Cross-Sectional

Case-Control


There is one SNP

SNPs


1 D299G

Of 44 identified SNPs (small nucleotide polymorphisms) in TLR4, the most common is an A-G substitution at nucleotide position +896, downstream of the cDNA start codon, a missense mutation which leads to an amino acid substitution Asp299Gly in the third exon of the TLR4 gene. --- Asp299Gly ---

TLR4 SNP Asp299Gly. --- Asp299Gly ---



HPO Nodes


HPO:
Neoplasm of the skin
Genes 274
COL7A1 LZTS1 GTF2H5 SDHC NRAS KRAS ERCC2 KIT CTSC RASA1 RECQL4 SUFU ERCC2 TGFBR2 PORCN ERCC4 TARS1 ERCC3 XPC ERCC2 FH KRT17 NTHL1 PTEN MSH3 PIK3CA RASGRP1 IL7 ERCC4 TNFRSF1B SDHD PRKCD CYLD MBTPS2 CXCR4 KIT BMPR1A FAN1 NF1 KRT1 MSH3 CDKN2B KEAP1 DICER1 TNFRSF4 PTCH2 TERC CDKN2A KDSR CIB1 GJB4 PTCH2 CDKN2C RNF113A DCC COL7A1 ERCC3 ERCC4 SNAI2 CHEK2 IFNG TMC6 COL1A1 TRPV3 GJC2 TINF2 FLT4 PRKAR1A MSH2 MLH1 STAT1 KRT6B HPGD CASP10 TERT NLRP1 ERCC5 NUTM1 SLCO2A1 RSPO1 MDM2 PTEN FCN3 KRT16 DOCK8 HRAS BRAF NF2 TYR KRT17 NF1 PSENEN WRAP53 RNF6 MEN1 TSC1 MSH2 CYLD PTEN PERP IGHM TP53 PDGFB KRAS POLH BMPR1A BLM NOTCH3 TNFRSF1B KRT5 MLH3 SUFU KRT9 CTLA4 FLCN CD28 DDB2 NRAS ECM1 CTNNB1 MSH2 COL7A1 FLT4 TCF3 MEN1 FH KRT17 SMO NRAS MMP1 LMNA FGFR1 MVK PTCH1 GPR143 APC NF1 PMS1 CDK4 APC NF2 WNT10A GJB6 TSC2 KIT BLNK SPRED1 AKT1 NRAS SDHC NTHL1 SMARCB1 GJB2 MLH1 PMS2 LMNA MSH6 CXCR4 LAMB3 CD79B MPLKIP NF2 CDKN2A KIT MSH6 PIK3CA BAP1 PDGFRB VEGFC KLLN RMRP HRAS CTLA4 LRRC8A FAS KRAS BRD4 CARMIL2 SDHB MSH2 WNT10A PRKAR1A CYLD KRT14 IGLL1 PIK3CA HRAS TYR ERCC3 MITF GJB3 CD79A GNA14 MLH1 CDKN1A RPS20 GJB2 SLX4 PTCH1 OCA2 TP53 APC CDKN2A CIB1 AKT1 CDKN2A FDPS STK4 ERCC5 LAMA3 TMC8 PDGFB ING1 MSH6 KIT GJA1 LAMC2 PIK3R1 CDKN1B OCRL BLM FH NF1 GTF2E2 EPCAM KLLN SEC23B TGFBR2 SEMA4A PIK3CA XPA SLC17A9 TNFRSF10B FAS DKC1 APC RECQL4 CD28 NRAS PTEN MLH1 DDB2 TMC6 CTNNB1 ERCC2 SASH1 MC1R PMS2 SLC45A2 MVD SEC23B KIT WRN PTEN ALX3 SDHB FERMT1 FASLG PMVK MMP1 HRAS COL7A1 TP53 XPC ERCC3 WWOX CDKN1B PLCD1 GJB2 PTCH1 IKBKG POLH MC1R DCLRE1C