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
ABHD12 ALAD FAM126A GRM1 DMXL2 PMM2 CYTB SLC25A19 COX3 SLC12A6 TBC1D24 ERCC8 NGLY1 OPA1 ABCD1 C12ORF65 ARL6IP1 PRPS1 DARS2 DHH PDK3 AIFM1 MYD88 ERCC6 ND4 SEPTIN9 SNAP29 LDB3 ND1 SH3TC2 ATP6 DGUOK PSAP NAGS SETX ND6 ARL6IP1 CYP7B1 ND4L COQ7 GSN PEX12 EDNRB ND5 MYOT RPIA ND2 TTR PIK3R5 TTR GCLC ATP7B DHH GSN FUCA1 CD59 PEX11B PEX7 PDYN
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 342
DOCK8 CTHRC1 WT1 APC ABCC8 GPC4 PTEN TNFSF15 SMPD1 PRKCD SDHC APPL1 SUFU TCF4 STK11 SMAD7 TTC37 TP53 AHCY POLE H19 RAD51D SDHD RNF43 FASLG CC2D2A SDHC BUB1 PIK3CA TP53 BAP1 ENG SDHD PMS2 CTNNB1 CR2 C11ORF95 PTPN3 PIEZO2 ABCB11 SETBP1 SLC37A4 RELA DAXX MST1 RAD51C SMAD4 FGFR3 PTCH2 SH3KBP1 RPS20 BMPR1A TNFSF12 BMPR1A SMAD4 RAD50 WWOX EP300 SPRTN MSH3 RHBDF2 TP53 FAH GREM1 APC TRIM28 SETBP1 TP53 HNF1A KEAP1 COL14A1 RHBDF2 POLE INS HBB MEN1 NAB2 PMS1 WT1 HFE KRAS EDN3 POLD1 ARSA STAT6 CDKN1C KRAS PTEN PALB2 SEMA4A HABP2 CD81 POU2AF1 TNFSF12 SMAD4 CDH1 IRF1 SEC23B MGMT H19 SDHD IGF2 PDGFRA RET MUTYH NBN MEN1 BRCA2 FAS BRIP1 NFKB2 GNAS RNF6 EDNRB BUB1B CDKN2B DCC TJP2 TP53 PAX4 BUB1B MC1R GCK MDM2 ERBB2 SMAD4 MLH1 STAT1 SRC IL12RB1 IRF5 TNFRSF13C TNFRSF13B ICOS BMPR1A CASP8 INPP5E RAD21 NFKB1 CDKN1A POT1 MINPP1 HNF1A IL12A H19 TRIP13 TMEM67 PMS1 MSH3 PIK3CA KCNQ1 ASCC1 IGF2R BARD1 MLH3 CDK4 SDHC IGF2 MLH1 MSH6 BRCA2 POU6F2 EPCAM ACD TNPO3 APC ATRX PIK3CA SKIV2L PALB2 IL1B MLH1 APC SDHC FOXE1 APC FLCN SDHB PIK3CA EPCAM MEN1 KLF6 TERT SDHB KRAS GDNF LMNA ACVRL1 CTNNB1 CDKN1B CCND1 TRIP13 SDHB DIS3L2 APC STK11 MSH2 AKT1 SLC25A13 BMP2 SDHA GDF2 F5 PMS2 APC APC PTEN IL1RN HBB MITF RASGRP1 CASP10 SMAD4 MRE11 COMP DLEC1 TRIM28 SDHB CHEK2 SDHC BRCA2 BRCA1 SEMA3D DLC1 CHEK2 MSH6 TGFBR2 PIK3CA HFE APC SLC37A4 BLM CDKN2A FH KCNJ11 SLC25A13 JAG1 POLD1 CHEK2 PHKA2 DICER1 PIK3CA HFE MSH2 REST AXIN2 HMBS MS4A1 RPS19 PTEN UROD BMPR1A GPR35 PRKCD JAK2 SDHD SEC23B CTNNB1 CDKN1B AXIN2 HMBS KIT RAD51 TP53 MUTYH SDHB AXIN1 SEMA3C PSAP FGFR2 BMPR1A USF3 TGFBR2 AKT1 PDX1 NTHL1 BUB3 H19-ICR KCNQ1OT1 BLK RPGRIP1L RNF43 NRAS MTOR AAGAB BMPR1A TERF2IP SERPINA1 FAH FAN1 NEUROD1 TGFBR2 MLH1 KLLN GPC3 MSH6 APC G6PC PALLD BCL10 CD19 WRN PTEN KIT GPC3 MSH2 ECE1 CEP57 TREX1 CDKN2B APC PDGFRA KIT MMEL1 NRTN PHKG2 CDKN2A HNF4A KLF11 FAS MET MLH3 BUB1 CASP10 CDKN2C MSH2 SPIB ATP7B PDGFRL PTPRJ AXIN2 AKT1 ENG MUTYH BRCA1 FLCN PTCH1 CEL CDKN2A SDHB MSR1 PRKAR1A
Protein Mutations 5
C10D G12D G12V G34A V600E
SNP 2
rs2231137 rs3114018