SNPMiner Trials by Shray Alag

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Report for Mutation D312N

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Phase I Hyperthermic Intraperitoneal Oxaliplatin for Peritoneal Malignancies

RATIONALE: Drugs used in chemotherapy, such as oxaliplatin, leucovorin, and fluorouracil, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Hyperthermia therapy kills tumor cells by heating them to several degrees above normal body temperature. Peritoneal infusion of heated and nonheated chemotherapy drugs after surgery may kill more tumor cells. PURPOSE: This phase I trial is studying the side effects and best dose of hyperthermic intraperitoneal oxaliplatin followed by intraperitoneal leucovorin and fluorouracil in treating patients with peritoneal cancer.

NCT00625092 Peritoneal Cavity Cancer Drug: fluorouracil Drug: leucovorin calcium Drug: oxaliplatin Procedure: cytoreductive surgery
MeSH:Fever
HPO:Fever

The infusion will be repeated on day 2. Blood samples are collected prior to surgery for pharmacogenetic studies and analyzed for the presence of genetic polymorphisms in the XPD and XRCC1 DNA repair genes and the GSTP1 and GSTM1 glutathione-S-transferase enzymes (i.e., XPD, Asp312Asn, XPD K751Q, XRCC1 Arg399GIn, XRCC1 Arg399Q, GSTP1 l105V, and GSTM1 DEL). --- Asp312Asn ---

Primary Outcomes

Measure: Maximum tolerated dose of hyperthermic intraperitoneal oxaliplatin

Time: 30 Days Post Treatment

Secondary Outcomes

Description: Using the Functional Assessment of Cancer Therapy for Colorectal Cancer (FACT-C) and SF-36 (Quality of Life Evaluation in Dialysis Patients) questionnaires, the quality of life following cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPC) will be reported and compared to the preoperative baseline.

Measure: Changes in quality-of-life

Time: Baseline and at 4, 8, and 12 months

Measure: Overall survival

Time: 1 Year and 5 Years

Measure: Time to Disease Progression

Time: Monthly

HPO Nodes

HP:0001945: Fever
Genes 340
LIFR CYBA NKX2-1 PRSS1 KLHL7 KCNJ1 EIF2B3 LBR BIRC3 SPTB ELP1 EIF2B4 BLNK NAB2 RANBP2 LPIN1 EPB42 CD79A IL36RN STAT5B SPINK1 NOTCH3 TP53 MEFV TP53 TRNF ERCC5 IL12A-AS1 TREX1 SLC11A1 CTLA4 MLX PRKAR1A RUNX1 IGHM AVPR2 GPR35 PRSS2 RAG2 PML SLC29A3 ADA2 STAT3 EPB41 CYP11B2 EDA IGH NGF GLA CALR CCR1 MALT1 ND1 ND4 GPC3 XPC IL6 CCND1 KLRC4 ND1 CFH PSTPIP1 SAMHD1 HLA-B TCF4 TRNQ LPIN2 BCOR BRCA2 P4HTM NOD2 NLRP3 BCL10 IRF2BP2 SH2B3 NLRP3 SH3KBP1 CYBC1 BCL6 IRF8 CACNA1S LIG4 MYD88 BCL2 RYR1 ZBTB16 IL7R GCH1 LACC1 KIF1B HMGCL CASK NLRP3 SCNN1A COX3 ATP6 HAVCR2 TREX1 HLA-B POMP STX11 POU6F2 TNFRSF1A C4A CYP11B2 IKZF1 ATM LIPA UBAC2 NOD2 TMEM165 NUMA1 AQP2 RAG2 ABCC2 RARA RB1 MST1 NCF4 LIFR SPTA1 LYST PMP22 ADA RAG1 PTPN22 ORAI1 F5 DST TRNS2 SLCO1B3 KRT8 EIF2B5 TRIM28 GALC TLR3 AK2 AQP2 TRAF3 FIP1L1 WT1 TNFAIP3 SPP1 WT1 RNASEH2B EIF2B2 ELANE BCAP31 SLC29A3 HLA-DPB1 HTR1A UNC13D HLA-DPA1 CPT2 LRRC8A GYPC QDPR TSC2 DCLRE1C CFTR TRIM28 TRNS1 TLR4 NPM1 ANK1 SCNN1B ACAT1 AVPR2 ND5 NLRP3 TRNH FAS ATP1A3 CYP21A2 PEX6 GFI1 CHEK2 IL12A IGH LPIN2 TICAM1 NLRC4 CD3D ELANE PSMB9 WIPF1 IL2RG REST NLRC4 SRP54 TSC1 CD247 XPA PRKAR1A IRF8 MVK NCF2 ERCC3 HLA-DRB1 CACNA1A CD3E ZFHX2 ATP13A2 XIAP STIM1 NABP1 GALC NLRP1 IL10 IFNGR1 IL12B STAT4 MIF HLA-DRB1 WAS STAT4 RNF168 RMRP IL23R SLCO1B1 MEFV STXBP2 DIS3L2 RAB27A ERAP1 IBA57 MPL FOXP1 STAT3 STAT6 SCYL1 CALR MPL NLRP3 SPTB TRIP13 ADAR MEFV CACNA1S IFIH1 BTNL2 COX1 TBL1XR1 PTPN22 CFHR1 TRNW PRNP ATP1A2 ND5 CRLF1 PTPN3 CD79B CHD7 BCR GATA2 HBB SLC19A3 IGLL1 IRAK1 RYR1 PRTN3 CTRC COG6 UNC93B1 CYBB ND6 TCIRG1 TBK1 IL7R TH SLC12A3 G6PD GAA HLA-B IGH CYTB FBP1 PTS IL2RG JAK2 HMGCL JAK2 STING1 DDB2 ND4 MEFV AVP NLRP3 TRNL1 SLC4A1 RYR1 ADAMTS13 SPTA1 ND3 EIF2B1 NTRK1 RNASEH2C KRT18 POLR3A ALPL TRNK SLC12A1 TRNW SCNN1G ERCC2 ND6 TCF3 ND2 TNFRSF1A PSMB4 JAK2 PIK3R1 COX2 COL1A1 H19 CFTR NCF1 RNASEH2A HLA-DRB1 TRNV PSAP NGLY1 CD27 BTK HLA-DRB1 ABL1 LACC1 NLRP3 ERCC4 COL1A1 PMM2 TRNL1 RAG1 HAVCR2 CFHR3 TET2 ASAH1 TET2 NLRP12 MYD88
Protein Mutations 7
D312N E148Q K751Q P46L Q12H R92Q V600E
SNP 2
rs222797 rs2297201