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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 344
TRNF MEFV SCNN1B TNFAIP3 LPIN2 IL2RG CD247 WT1 TH TLR3 SCNN1A IL2RG NLRP3 TET2 ERCC4 SPINK1 HLA-DRB1 MLX LIPA NGLY1 TCF4 PTS ATP1A3 LPIN2 HAVCR2 KLRC4 DCLRE1C NPM1 NOTCH3 KIF1B H19 NOD2 SPINK1 IL12A CTRC TRNL1 LPIN1 RYR1 LRRC8A PRKAR1A BCL10 CRLF1 GAA NKX2-1 NLRP3 CHD7 FIP1L1 ND4 SLC29A3 PTPN3 LACC1 KRT8 CASK IRAK1 SCYL1 RNASEH2B SPTB MST1 PML MALT1 AQP2 TBL1XR1 IL12A-AS1 ERAP1 SH3KBP1 CD79B LBR SRP54 SLC12A1 IL7R TP53 SPTA1 SLCO1B1 EIF2B4 TRNK FOXP1 IL7R SLC19A3 TRIM28 UNC93B1 ND1 NLRP3 SCNN1G ELP1 RYR1 RANBP2 IFIH1 NAB2 NGF JAK2 WT1 COX2 NCF2 MVK CTRC BCL2 STAT6 ANK1 KRT18 IRF8 ELANE COG6 CYP11B2 CD79A NOD2 CFH RNASEH2A QDPR ADAMTS13 BCR CACNA1A ERCC3 IGH BLNK PSMB9 ND3 HMGCL RMRP TCF3 EIF2B2 SLC29A3 BRCA2 GYPC IGH CACNA1S HLA-B TRNQ CACNA1S HLA-DPB1 SPTB ERCC2 ADAR ADA NCF4 CPT2 TMEM165 MEFV POMP C4A ABL1 STX11 CD27 UBAC2 GALC CALR PTPN22 IRF8 ZFHX2 NTRK1 NLRP3 HLA-DRB1 TSC2 TRNS1 NCF1 TRIP13 TP53 IL23R F5 STAT3 STAT3 RAG2 NLRC4 PRSS1 IBA57 CHEK2 TSC1 ELANE ADA2 BTK EPB41 C1R GFI1 BCAP31 TRNL1 COL1A1 FBP1 POU6F2 TET2 SLC4A1 PRNP PIK3R1 GLA LIFR SLC12A3 CFTR EIF2B3 PRKAR1A AVPR2 DDB2 CYTB TLR4 BIRC3 PEX6 HAVCR2 IRF2BP2 HLA-DPA1 ACAT1 ND1 SPTA1 STAT4 TRAF3 DIS3L2 IL10 EIF2B5 GCH1 ATM TNFRSF1A IGH RB1 RAG1 ND6 XIAP HBB EIF2B1 BCOR ND2 MPL KCNJ1 ND5 TRIM28 STAT4 PSMB8 HLA-B WAS EPB42 NLRP12 AK2 TRNW COX3 HTR1A POLR3A LIFR HMGCL P4HTM TNFRSF1A RNASEH2C STIM1 MYD88 BTNL2 SH2B3 TRNH COX1 CYBA PSMB4 IKZF1 KLHL7 GATA2 JAK2 NLRP1 REST CFHR1 ZBTB16 CALR NLRC4 NUMA1 LIG4 GPR35 AVPR2 ND5 ATP6 RAG1 ND4 SLC11A1 BCL6 TREX1 XPA TRNS2 IL36RN PTPN22 ALPL STAT5B C1QA LYST SAMHD1 ERCC5 RAB27A RAG2 CFHR3 PMM2 AVP XPC NLRP3 NLRP3 CYBB JAK2 TCIRG1 CYP11B2 RYR1 MPL ATP1A2 MEFV IL12B FAS CCR1 MYD88 PSTPIP1 RUNX1 CD3E ABCC2 HLA-DRB1 ORAI1 SPP1 TBK1 TRNV AQP2 COL1A1 CYP21A2 PMP22 TICAM1 HLA-DRB1 EDA STING1 RNF168 GPC3 NABP1 ATP13A2 TREX1 DST PRSS2 UNC13D IFNGR1 CD3D WIPF1 NLRP3 CFTR IGHM CYBC1 STXBP2 ND6 CTLA4 PRTN3 RARA IGLL1 MEFV IL6 NLRC4 CCND1 HLA-B NLRC4 PRSS1 SLCO1B3 G6PD MIF TRNW
SNP 0