SNPMiner Trials by Shray Alag

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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 Gastrointestinal Tract Cancer Peripheral Neuropathy 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:0001271: Polyneuropathy
Genes 59
ALAD DARS2 GSN ND6 TBC1D24 SNAP29 PSAP GSN SLC12A6 TTR ERCC6 TTR SEPTIN9 ND1 COQ7 ARL6IP1 DMXL2 ATP7B PEX12 AIFM1 DGUOK CD59 ND5 SLC25A19 CYTB PDYN SETX CYP7B1 ATP6 PEX11B FUCA1 PIK3R5 DHH PDK3 ND4 NGLY1 GCLC GRM1 ARL6IP1 OPA1 ND2 ABHD12 ERCC8 MYD88 EDNRB C12ORF65 FAM126A PEX7 LDB3 PMM2 PRPS1 ABCD1 COX3 ND4L SH3TC2 DHH NAGS MYOT RPIA
Protein Mutations 24
E89Q F64L G11778A G3460A G34A G47A G47E I107M I107V I84T K70N L265P L55R L58H P4503A S77F S77Y T14484C T49A T60A V122I V30A V30M Y114C
SNP 3
rs1800497 rs2231137 rs3114018
HP:0007378: Neoplasm of the gastrointestinal tract
Genes 353
CHEK2 EPCAM DOCK8 PIK3CA SDHB KIT MINPP1 SDHD MET PDX1 PSAP NAB2 KEAP1 HNF1A APC SLC25A13 STK11 PDGFRA SPRTN PMS2 RAD51C KLF11 EPCAM GPC3 SETBP1 IGF2R SDHB TREX1 CASP10 ATRX RELA PDGFRA TJP2 APC GPR35 AURKA SDHD CD81 PTEN CDKN1B AXIN2 TTC37 DLC1 CTNNB1 SDHC TP53 HABP2 HFE BRIP1 BMPR1A SDHC AKT1 ACVRL1 GPC3 MLH3 PTCH1 CD19 FAH MSH2 MSH2 MSH3 FLCN ABCB11 PIEZO2 BLK SDHC PIK3CA AXIN1 TRIP13 WWOX TNFRSF13B PALLD CC2D2A TCF4 SEC23B CDKN2A EDN3 ERBB2 BRCA2 SERPINA1 NBN INS MEN1 SETBP1 CDH1 TNFRSF13C SH3KBP1 SLC37A4 FOXE1 MTOR RHBDF2 IL1RN MUTYH TP53 TMEM67 PALB2 MGMT GPC4 RAD51D WRN RAD21 PMS2 ASCC1 KCNJ11 TGFBR2 KRAS FASLG SDHD SMAD4 SMPD1 POU6F2 MLH1 DAXX BUB3 RPGRIP1L FAS CTNNB1 BUB1 H19-ICR PDGFRL MST1 KRAS AXIN2 SEMA4A NRAS SDHC UROD CHEK2 ARSA POLE TLR2 TRIM28 PIK3CA IL1B TERF2IP DICER1 POT1 HFE F5 RHBDF2 MDM2 WT1 APC WT1 TNPO3 TGFBR2 SEMA3D IGF2 SMAD4 CDKN1A ABCC8 TRIM28 BAX COMP PIK3CA GDNF KLF6 CDKN2C FAN1 PTEN BMPR1A PALB2 DLEC1 FLCN JAG1 MLH1 SPIB ICOS CEP57 MLH1 BAP1 KIT SDHB CDKN2A PTPRJ CTHRC1 KLLN JAK2 POLD1 FAH DCC TERT REST RAD50 INPP5E BMPR1A NFKB1 HBB RNF43 STAT1 EDNRB BMPR1A GDF2 ATP7B ACD PTEN MCC HFE FGFR3 PTEN MEN1 SDHB APC CASP10 PIK3CA MS4A1 RASGRP1 CDK4 NTHL1 SLC37A4 MRE11 BCL10 FGFR2 SKIV2L BMPR1A G6PC DIS3L2 POU2AF1 FH STAT6 SMAD4 POLE NEUROD1 MLH3 APC AKT1 DMPK SLC25A13 BRCA1 APC TRIP13 PMS1 TP53 MSH6 TGFBR2 CDKN2A BARD1 ENG MSH6 CTNNB1 PMS1 APC LMNA SEC23B STK11 PTPN3 HBB MITF BUB1B BRCA2 IL12A RAD51 MLH1 PTPN12 MLH3 AAGAB POLD1 AKT1 TP53 PLA2G2A RNF43 APPL1 COL14A1 KRAS MC1R BRCA2 BMP2 TP53 MUTYH CHEK2 BUB1B PHKG2 BMPR1A RET AXIN2 GREM1 EP300 PAX4 TP53 AHCY ECE1 C11ORF95 KIT KCNQ1OT1 RAD54B APC IL12RB1 RNF6 SMAD4 SDHB HMBS SDHB HMBS MSH2 PRKAR1A HNF1A MSH6 SEMA3C CDKN1B IGF2 CEL PTCH2 HNF4A MMEL1 RPS20 BUB1 CDKN1C USF3 PTEN TNFSF12 BLM NRTN PHKA2 H19 PYGL IRF1 IRF5 CR2 CDKN2B SDHA GNAS MEN1 KCNQ1 NFKB2 MSH2 TNFSF12 FAS ENG CASP8 CCND1 H19-ICR APC MUTYH ODC1 GCK PDGFRL SMAD4 PRKCD PIK3CA TNFSF15 APC MSR1 PRKCD SRC BRCA1 APC SMAD7 RPS19 CDKN2B MSH3 SUFU SDHC SDHD
Protein Mutations 5
C10D G12D G12V G34A V600E
SNP 2
rs2231137 rs3114018