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Report for SNP rs2231137

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.

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).

- 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

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


Polyneuropathy
Genes 59
GCLC NAGS SLC12A6 ERCC6 AIFM1 C12ORF65 PSAP CYP7B1 COX3 PEX11B ATP6 ARL6IP1 COQ7 OPA1 PIK3R5 SH3TC2 LDB3 PEX12 ALAD ABHD12 FAM126A EDNRB NGLY1 ND2 ABCD1 CYTB PEX7 RPIA GSN TBC1D24 GRM1 SNAP29 TTR ND5 PDK3 ND4 GSN DGUOK PMM2 ND4L DHH ND1 TTR SEPTIN9 FUCA1 DARS2 PRPS1 SETX SLC25A19 PDYN ATP7B ERCC8 DHH DMXL2 MYOT MYD88 ARL6IP1 CD59 ND6
Neoplasm of the gastrointestinal tract
Genes 340
GPC3 SDHC SDHC MGMT MS4A1 SUFU APC EPCAM INS NFKB2 ABCC8 CDKN2B PALLD POU2AF1 BRCA2 FH HMBS GREM1 APC NTHL1 PTEN RAD51D MSH3 SLC25A13 PIK3CA RASGRP1 UROD KIT TP53 SDHD PRKCD RNF43 SLC37A4 SDHB BAP1 BMPR1A FAN1 CTNNB1 SDHD NEUROD1 MSH3 RPGRIP1L CDKN2B KEAP1 DICER1 WT1 MSH6 PSAP CDKN2A FGFR3 BMPR1A PTCH2 MUTYH CDKN2C BMPR1A CDK4 RELA EP300 ENG TNFSF15 SMAD7 AXIN2 BRCA2 TREX1 TERF2IP ICOS TNFSF12 CHEK2 COMP PRKAR1A PIK3CA KLF11 GPR35 ENG MLH1 STAT1 CDH1 BLK POLE CASP10 IL1B CASP10 SMAD4 H19-ICR SDHB RAD21 MTOR TRIP13 TRIM28 MEN1 JAG1 TNFRSF13B MDM2 BMP2 BRCA2 BCL10 PTEN POU6F2 GCK BUB1B KCNQ1 DOCK8 SEMA3C ACD KLF6 SMPD1 TP53 BUB3 DCC AXIN1 MEN1 MSH2 KCNJ11 TP53 PTEN JAK2 DIS3L2 MITF SH3KBP1 BMPR1A TP53 BUB1 BLM FAH CDKN1C BARD1 SPIB AAGAB RAD50 PHKG2 TNFRSF13C NBN MST1 MLH3 MSH2 IGF2 FLCN SLC37A4 PALB2 CDKN2A SETBP1 SDHC MSH2 CR2 IGF2 MLH1 MC1R IL12RB1 MEN1 RAD51 MLH3 MET MMEL1 SEMA3D H19 APC RNF6 PMS1 CHEK2 CDKN2A MSR1 CC2D2A APC TJP2 TNPO3 ECE1 TTC37 REST TMEM67 GDF2 AHCY CD19 HNF1A NRTN IL1RN TRIP13 IGF2R AKT1 ASCC1 FLCN BRCA1 SDHC HFE MLH1 PMS2 LMNA SDHC ACVRL1 RAD51C SDHD SRC GNAS BUB1 CHEK2 APC HBB PDGFRA PIEZO2 PMS1 STAT6 SDHB SDHB MSH6 RET APC KRAS INPP5E KRAS SETBP1 SKIV2L POLD1 FAS KRAS ARSA SMAD4 DLEC1 RNF43 DLC1 BMPR1A SDHB MSH2 PIK3CA HMBS SMAD4 EDNRB MUTYH G6PC SPRTN PAX4 RHBDF2 PIK3CA SERPINA1 FOXE1 PDX1 ATP7B CTHRC1 ABCB11 ERBB2 MLH1 CDKN1A RPS20 BRCA1 RPS19 HFE H19 POT1 TRIM28 GDNF TERT APC F5 APC AKT1 WT1 CTNNB1 CEL KIT TP53 GPC4 COL14A1 PRKCD HNF1A ATRX CASP8 HFE SMAD4 POLE DAXX AKT1 MSH6 HABP2 KCNQ1OT1 KIT EDN3 H19 NAB2 NRAS MUTYH CDKN1B BRIP1 TGFBR2 MRE11 HNF4A FAH STK11 TGFBR2 SDHD AXIN2 EPCAM AXIN2 TCF4 KLLN APC IL12A PTPN3 SEC23B TGFBR2 SEMA4A POLD1 PIK3CA PDGFRA MINPP1 FAS APPL1 APC CD81 WWOX SMAD4 STK11 CTNNB1 BMPR1A HBB C11ORF95 NFKB1 IRF1 SEC23B GPC3 WRN PTEN PALB2 SDHA PHKA2 PDGFRL PMS2 TNFSF12 RHBDF2 SDHB BUB1B FGFR2 FASLG CEP57 SLC25A13 IRF5 PIK3CA TP53 PTPRJ CDKN1B PTEN APC PTCH1