SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G71R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Phase I Clinical Trial to Investigate the Correlation Between UGT1A1 Genotype and Irinotecan (CPT-11) Pharmacokinetics and Toxicity in Cancer Patients

Phase I trial to study genetic testing and the effectiveness of irinotecan in treating patients who have solid tumors and lymphoma. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Genetic testing for a specific enzyme may help doctors determine whether side effects from or response to chemotherapy are related to a person's genetic makeup

NCT00003970 AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Ly Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma St Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Drug: irinotecan hydrochloride
MeSH:Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome
HPO:Anaplastic large-cell lymphoma B-cell lymphoma Burkitt lymphoma Chronic lymphatic leukemia Cutaneous T-cell lymphoma Hodgkin lymphoma Leukemia Lymphoma Non-Hodgkin lymphoma T-cell lymphoma

Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Ly Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma St Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Lymphoma, T-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome OBJECTIVES: I. Classify patients with solid tumors or lymphoma according to UGT1A1 promoter (TATA box) and coding region (Gly71Arg) mutation, and CYP3A4 promoter (G to A) polymorphisms. --- Gly71Arg ---

The DNA is analyzed for the UGT1A1 coding region mutation (Gly71Arg) and CYP3A4 promoter polymorphism. --- Gly71Arg ---

Primary Outcomes

Description: A Cochran-Armitage test for trend will be used to determine whether there is a linear trend in the proportion of patients within each genotype experiencing grade 3-4 diarrhea. Similarly, trend analysis will be performed to determine if there is a linear trend in the proportion of patients within each phenotype experiencing grade 3-4 myelosuppression. Genotype (3 ordered levels) will be modeled as a function of metabolic ratios and biliary index to determine whether these are independent.

Measure: Grade 3-4 diarrhea

Time: Up to 4 years

Secondary Outcomes

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent.

Measure: Genotype

Time: Up to 4 years

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent. Modeled as a function of metabolic ratios and biliary index.

Measure: Phenotype

Time: Up to 4 years

2 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960 Spinal Muscular Atrophy Neonatal Hyperbilirubinemia Colon Cancer
MeSH:Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
HPO:Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---



HPO Nodes


HP:0003202: Skeletal muscle atrophy
Genes 735
PFN1 GLE1 SGCD MTAP INSR NEB FRG1 PMP22 ERLIN1 NARS2 PLEKHG5 LMNA TIA1 CRPPA KLHL9 NEFL COG7 PMP22 PNPLA6 PEX7 LARGE1 MAG LRSAM1 CD59 OGDH PON1 SACS ERGIC1 TPI1 TDP1 GBE1 ADSL GPR35 WASHC5 TK2 EGR2 PRPH SYNE2 PPARGC1A BICD2 LIMS2 MPZ C19ORF12 DNA2 TRPV4 ATP8 PMP22 TPM2 GFPT1 HSPB3 VAPB AIFM1 RYR1 AK9 LMNA SLC5A7 VPS13A KIF1A TRIM32 HMGA2 TNNT1 COLQ POLG TCF4 SDHB COL6A2 SLC33A1 SLC7A7 COQ2 TTPA NDUFAF6 ATXN3 NEK1 PNPLA6 SYNE1 KDM5C SCN4A POLG TBCD PIEZO2 HK1 HSPB1 OPTN COL13A1 MYMK COL6A1 ZC4H2 REEP1 PHYH SFXN4 MYH7 HNRNPA1 AGL NDUFA12 WRN C9ORF72 UNC13A SELENON CHRNG DYSF ALDH18A1 GYG1 CHRNE COL6A3 BBS4 CAPN3 PDE8B NALCN DYSF ANTXR2 TPM2 COL6A1 LRP12 PSMB8 VRK1 PNPLA6 PRUNE1 PRKAR1A CRPPA SQSTM1 MME KIF5A MST1 TRAPPC11 SELENON ATXN1 IGHMBP2 APTX DYNC1H1 RYR1 DMD RAI1 LAMP2 PHGDH SLC18A3 COA7 SLC25A4 TRPV4 COL13A1 ERBB4 UBQLN2 KY TOE1 SQSTM1 ABHD12 MTMR2 TRAPPC11 CNTNAP1 LDB3 SALL4 PLEC LEMD3 BMP1 DGUOK ADSS1 FAM126A FARS2 PFN1 ATAD3A JPH1 PNKP LMNA GNE HNRNPDL MYH14 TIA1 GNAS ACTB SPTBN4 COL6A3 SDHD ZFYVE26 NUP88 HNRNPA2B1 DYSF TBC1D23 MYH3 C9ORF72 CCNF HSPB1 REEP1 ALS2 TARDBP SGCB DARS2 MYO9A MED25 TFG SEPTIN9 PIP5K1C SLC52A2 INPP5K SDHAF1 TTC19 C12ORF65 SIL1 AGRN SPG11 ACTA1 TK2 SNAP25 BBS10 SLC39A13 BSCL2 BICD2 DCTN1 AIFM1 RNASEH1 DNMT3B KIF1A TMEM43 BVES NEB BBS9 TREM2 SLC25A19 ATXN2 VAPB CHMP2B CHRNB1 PHF6 PYGM SCN4A BBS2 SQSTM1 FKTN PEX5 KLC2 CRPPA DOK7 SIL1 CHRNE ZFYVE26 C19ORF12 SYNE1 NEFH COL12A1 SOD1 INF2 MAFB STIM1 SUCLG1 MTM1 LZTFL1 NOP56 NEU1 MGME1 USP8 DMPK RBM28 FIG4 VCP SOD1 TARDBP RXYLT1 CEP126 DES TYMP NDRG1 LMNA COL6A1 SMCHD1 SLC25A1 ARSI RBM28 ACADM LRP4 TIA1 LMNA CCDC115 WDR81 CAPN3 RRM2B GARS1 PEX10 FLNC NAGA KCNK9 FKRP ATP8A2 ATP7A ERLIN2 FKBP14 MKKS CHMP2B FKTN SPART GLE1 CFAP410 HINT1 PNKP POMT1 SELENON LTBP4 MPZ AIP TGFB1 SLC18A3 CCT5 PYCR2 CHRND SMN1 TTN SBF2 B4GAT1 SOX10 CPT1A SLC52A3 PRKACA HUWE1 SIGMAR1 AP1S2 AMPD2 AR ARL6 ASCC1 LEMD3 MYH7 NIPA1 TNXB TTN MME ANO5 NGLY1 ATL1 ALDH18A1 SLC5A7 ACTA1 CTNS MPZ MGME1 VCP FBLN5 MECP2 TTN EPHA4 PYCR2 GJB1 NBN SYT2 GJB1 LAMB2 ERBB3 DNM1L RTN2 ASAH1 FBXO38 SLC25A21 POLR3A CHRNA1 ANO5 TNFRSF1B ASAH1 OPA1 NUP88 DCTN1 AIFM1 TTC8 TRIM32 ERLIN1 HNRNPA2B1 TRIP4 CAPN3 SH3TC2 NEFH CHCHD10 PNKP VAMP1 HNRNPA1 COL6A2 AARS1 TTN DAO TRPV4 ATXN3 SURF1 DHTKD1 DMD GDAP1 MYMK SPRTN SMN1 SMN2 TRAPPC11 COL6A2 FHL1 BSCL2 C19ORF12 RPS6KA3 EGR2 HINT1 PON2 SCN9A SGCA REEP1 ERLIN2 YARS2 SMN1 VPS13D ABCA1 CHRNB1 FUS MYOT BSCL2 INSR COG8 PMP22 BBS5 HNRNPA1 CAV3 B4GALNT1 POMGNT2 MSTO1 HSPG2 TBCK MYPN NEB PUS1 MFN2 TPM3 SPG11 SLC9A6 KLHL41 DCAF8 FKBP14 WARS2 SMCHD1 ALDH18A1 FUS LMOD3 ATXN3 SPEG SYNE2 COL12A1 GLE1 TTN GARS1 PHKA1 DNM2 VMA21 MATR3 NAGA RAB7A PNPT1 VAMP1 PON3 SGCD MFN2 AGTPBP1 MDH2 RAPSN COASY SUCLA2 MKS1 SLC12A6 TCAP SQSTM1 YY1 RYR1 NEB ACTA1 MYOT CA8 MUSK CAPN1 GLT8D1 AFG3L2 ALS2 RNASEH1 PEX6 FXN POMGNT1 MYH7 TPI1 COL6A2 DAG1 NEU1 GNE SLC39A13 CYP7B1 DCTN1 MORC2 GAN PLEC MAP3K20 PNPLA2 ANXA11 CCT5 BIN1 TRPV4 RYR1 ACTA1 MFN2 CRPPA FLNA DOK7 CHN1 EXOSC3 GBA2 DGUOK GARS1 NDUFS4 TAF15 RYR1 FLNC CAPN1 CTLA4 GJB1 AP1S2 BICD2 ATL1 ATXN2 ATXN3 KIF1C ACTA1 GDAP1 WDPCP SLC46A1 SCO2 PFKM PLOD3 FARS2 POMT1 REV3L CHRNA1 PRPS1 MPZ BBS12 FKRP CEP290 MYOT FAM111B RAPSN CPT1C ENTPD1 LMNA ADSS1 REEP1 BSCL2 PDK3 PMP22 CUL4B SLC16A2 MATR3 ANO5 RRM2B TUBB2B MPZ NEFL MPZ PLXND1 B4GALNT1 YARS2 IFT27 SDHA FGD4 HARS1 KLHL41 SDCCAG8 EMD KLC2 TARDBP VCP PTEN TBK1 TBK1 PNPLA6 PIK3R2 CHCHD10 KBTBD13 MUSK TPM3 PGAP1 FKRP TK2 DARS2 AMPD2 ERGIC1 ACADSB ZBTB20 COL6A2 PRX ATM SLC33A1 COL4A1 RETREG1 VCP MYH7 CHRNB1 LMOD3 BBS7 MPZ COL6A3 MPV17 NEFH TBCE TPM2 STAC3 SLC52A2 FIG4 TBK1 KLHL40 WNK1 MYPN YARS1 SCYL1 DOK7 VPS13A CHRNE ASAH1 KY PRPH ATAD3A KIF1C VLDLR TPM3 DUX4 FRG1 MPZ EGR2 MPZ HEXB SPART IBA57 DYSF SETX TRNL1 C9ORF72 CHCHD10 NOP56 BIN1 BBS1 DHH ITGA7 LMNA CD28 GMPPB TBCE COL2A1 CHRND POMK GFPT1 MECP2 CHP1 MYOD1 CPLANE1 SPAST PHKG2 COL6A1 FUS TMEM43 TNNT1 PDE11A MYBPC1 GDAP1 SACS COL6A3 NDUFA9 FBXL4 LITAF KIF1B SGCG ANG DNAJC19 KIF1A OPA1 POMT1 CHAT VAPB DAG1 FLRT1 FHL1 ACTA1 C8ORF37 NPHP1 ATL1 ANG VCP SYT2 PMP22 POMT2 ADK TBCD SETX SQSTM1 GDAP1 VCP AFG3L2 TRNE SMN1 POLG PUS1 IFRD1 STUB1 PHKA2 FKTN BBIP1 PRX MUSK B3GALNT2 HSPB8 POMT2 TNXB VCP TFG PYROXD1 ATXN1 C12ORF65 PLP1 PSAT1 GLE1 IFT172 FLVCR1 STAC3 ZC4H2 C12ORF65 TDP1 HSPG2 TPM3 MRE11 EXOSC8 GLB1 MCCC2 NDE1 DNAJB2 CPT1C KLHL41 TGFB1 GDAP1 UBA1 AGRN B4GALT7 BAG3 SLC16A2 LMNB2
Protein Mutations 1
G71R
SNP 0