SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G34A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Relation of Genetic Polymorphism of ABCG2 Gene And Occurrence of Oxaliplatin - Induced Peripheral Neuropathy in Patients With Gastrointestinal Tract Cancer

This study will examine DNA from Gastrointestinal Tract of cancer patients treated with oxaliplatin to look for a variation (mutation) of the ABCG2 gene that may lead to drug-induced peripheral neuropathy in certain patients. The DNA will be extracted from patients' blood samples and are analyzed for the ABCG2 single nucleotide polymorphism (G34A - rs2231137 and A/A -rs3114018 genotypes) and correlated with peripheral neuropathy grades.

NCT02428101
Conditions
  1. Gastrointestinal Tract Cancer
  2. Peripheral Neuropathy
Interventions
  1. Genetic: polymorphism analysis
MeSH:Gastrointestinal Neoplasms Peripheral Nervous System Diseases
HPO:Abnormal peripheral nervous system morphology Malignant gastrointestinal tract tumors Neoplasm of the gastrointestinal tract Peripheral neuropathy Polyneuropathy

The DNA will be extracted from patients' blood samples and are analyzed for the ABCG2 single nucleotide polymorphism (G34A - rs2231137 and A/A -rs3114018 genotypes) and correlated with peripheral neuropathy grades. --- G34A ---

Correlation of single nucleotide polymorphisms of ABCG2 gene (G34A - rs2231137 and A/A -rs3114018 genotypes) with peripheral neuropathy grades, using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE). --- G34A ---

- Neurologic disease or patients with disease impairing the neurologic function affecting Gastrointestinal Tract Cancer Peripheral Neuropathy Gastrointestinal Neoplasms Peripheral Nervous System Diseases Pharmacogenetic analysis/genotyping : Genotyping is conducted via High Resolution Melting (HRM) TECHNIQUE, To confirm the genotyping results, the Polymerase chain reaction (PCR) product of the samples will be examine via direct sequencing using 3500 Genetic analyzer from ThermoFisher (applied biosystem) at two ABCG2 loci using the following PCR primers: 1-ABCG2 G34A - rs2231137 Forward : 5'-TGC AAT CTC ATT TAT CTG GAC TA-'3 Reverse : 5'-AAT GCC TTC AGG TCA TTG GA-'3 -Annealing temp :57 -Product size : 163 2- ABCG2 A/A - rs3114018 Forward : 5'- TGATGTTCCTTCAGCCACTG-'3 Reverse : 5'-TTGTGGAAACCTCACAAAAGTG-'3 - Annealing temp : 59 - Product size : 124 --- G34A ---

Primary Outcomes

Description: Peripheral Neuropathy Toxicity will be assessed every cycle for six months using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE). Patients will be assigned to 4 groups according to the grades of neuropathy.

Measure: Correlation of single nucleotide polymorphisms of ABCG2 gene (G34A - rs2231137 and A/A -rs3114018 genotypes) with peripheral neuropathy grades, using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE)

Time: After 6 cycles of chemotherapy (each cycle is15 days), for six months


HPO Nodes


HP:0007378: Neoplasm of the gastrointestinal tract
Genes 380
MLH1 STK11 RPS19 KIT MLH1 AXIN2 CD81 AXIN1 HFE PRKAR1A WWOX MSH2 CTHRC1 CDKN1B MEN1 RAD51C RPL5 IRF1 RHBDF2 SDHD RNF43 TP53 WT1 HBB STAT1 SDHC HMBS ADA2 MDM2 MTOR SDHB MITF KCNJ11 RNF6 SMAD4 RNF43 SLC37A4 PTPRJ KRAS DAXX RHBDF2 LMNA C11ORF95 BMPR1A TJP2 CEP57 TNFSF15 BMPR1A NFKB1 BLK PMS1 PTEN EDNRB APC MSR1 KRAS SMAD7 CTNNB1 PDGFRA MSH2 CTNNB1 SUFU TRIP13 JAK2 ATRX TRIP13 GDF2 MLH3 CASP8 CEL MCC DIS3L2 BARD1 TP53 GPR35 MET RELA PYGL TP53 APPL1 CHEK2 IL1RN AAGAB APC ICOS MSH3 CDKN2A BRCA2 PRKCD BRCA1 POLD1 APC SEMA3C POT1 ABCB11 SMAD4 NEUROD1 MLH3 RPS7 CDKN2C FLCN SDHC AURKA FAN1 CDKN2A RAD21 G6PC POU6F2 MUTYH MSH2 TCF4 SPRTN MUTYH SDHC PTCH1 IL12RB1 TRIM28 CDKN2B CHEK2 TMEM67 GDNF PDX1 GATA1 SDHC INPP5E PRKCD BAX ARSA APC EDN3 BUB1 RASGRP1 FAH RAD51 SEC23B APC RAD54B SETBP1 AHCY BRCA2 PMS2 EPCAM MSH3 RPL15 EPCAM SRC HNF1A SMPD1 RPL35A BMP2 RET MEN1 RPS15A PAX4 GPC4 TP53 PTEN TERF2IP BMPR1A TNFRSF13C KIT HBB TP53 NBN SMAD4 RPL26 PIK3CA APC CPOX MGMT BLM MLH1 POLD1 RPS27 KLLN BRIP1 FASLG AXIN2 USF3 PTEN H19 UROD TGFBR2 WRN SH3KBP1 CR2 CDH1 SERPINA1 TNPO3 MEN1 SDHD PDGFRL STAT6 POLE COL14A1 RPL27 CC2D2A MSH6 TREX1 POLE SLC25A13 RAD51D PSAP GPC3 RPS20 JAG1 GNAS PALLD SDHB BRCA2 PALB2 ACD FGFR3 HABP2 DCC PIK3CA MSH2 RPS24 CASP10 HBB RPL35 RPS17 FAS ERBB2 APC TP53 BRCA1 PALB2 RPS19 H19-ICR PIK3CA IL1B FAS AKT1 BMPR1A PIEZO2 MS4A1 NFKB2 KCNQ1OT1 APC CD19 PHKA2 HNF4A EP300 SMAD4 POU2AF1 PTPN3 MST1 PIK3CA ABCC8 FOXE1 TGFBR2 KIT TNFRSF13B FGFR2 TGFBR2 HNF1A PHKG2 SEMA4A BUB1B HFE SLC37A4 SDHD MUTYH PTCH2 BMPR1A TTC37 SDHB TERT PPOX KRAS PKHD1 ODC1 IL12A PIK3CA SKIV2L DZIP1L NRAS FAH RPL31 HMBS CHEK2 HFE MMEL1 IGF2R RPL18 SDHD CCND1 PDGFRA DLC1 DICER1 IRF5 BUB1B SEC23B SDHB REST RPGRIP1L MLH1 PTEN MSH6 RAD50 NAB2 FLCN AXIN2 DLEC1 ECE1 SLC25A13 BUB1 GPC3 KCNQ1 SMAD4 CDKN2A ENG SETBP1 APC ASCC1 RPS29 SPIB SDHC PTEN MC1R MSH6 SDHB TSR2 RPS10 RPL11 AKT1 KEAP1 TRIM28 CDK4 INS ACVRL1 CDKN1A PIK3CA IGF2 H19-ICR STK11 CDKN1C IGF2 MRE11 CDKN2B FH BAP1 TNFSF12 WT1 APC F5 PLA2G2A PDGFRL KLF11 MLH3 DMPK GNAS PMS2 CTNNB1 ATP7B KLF6 TLR2 RPS28 PMS1 CDKN1B PTPN12 TNFSF12 AKT1 SDHB APC ENG NRTN BCL10 SEMA3D DOCK8 RPS26 GCK BMPR1A GREM1 SDHA MINPP1 CASP10 BUB3 NTHL1
Protein Mutations 5
C10D G12D G12V G34A V600E