SNPMiner Trials (Home Page)
Report for Mutation K751Q
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There are 2 clinical trials
Clinical Trials
      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 
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 ---  --- K751Q --- 
  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
      OPHELIA (OPHELIA (OlaParib and durvalumab in HEad and neck squamous celL carcInomA) trial is
      a Greek, investigator-initiated, randomized open-label window-of-opportunity phase II study.
      Patients with operable histologically documented squamous-cell carcinoma of the oral cavity,
      oropharynx, hypopharynx or larynx will be randomized between combination with durvalumab and
      olaparib, cisplatin and olaparib, monotherapy with olaparib or no treatment, before starting
      standard treatment.
    
Single-nucleotide polymorphisms:ERCC2 Lys751Gln (T/G). --- Lys751Gln --- 
Single-nucleotide polymorphisms: XPD Lys751Gln (A/C, C/C). --- Lys751Gln --- 
  Primary Outcomes 
 Measure: Investigation of the change in the tumour Ki-67 before and after treatment with the combination of olaparib + durvalumab or olaparib + cisplatin or olaparib monotherapy.
 Time: At baseline and at the day of the surgery or 2nd biopsy (at days 23-29 days)
  Secondary Outcomes 
 Measure: Objective response rate according to RECIST 1.1 criteria
 Time: Imaging studies will be performed at baseline and on week 4
 Measure: Pathologic complete response rate
 Time: On week 4 only for operable patients
 Measure: Metabolic response rate assessed by FDG-PET/CT scan (optional)
 Time: At baseline, on week 4
 Measure: Number of participants with tolerability to the treatment.
 Time: From the 1st day of therapy and every week for 4 weeks maximum and 90 days after last therapy administration
 Measure: Surgical complication rate
 Time: Up to 30 days after surgery or the day of initiation of the next anticancer therapy
 Measure: Mutations in genes associated with DNA repair
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Expression of tissue biomarker: PARP1
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Expression of tissue biomarker: BRACA1,2
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Expression of tissue biomarker: ERCC1
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Expression of tissue biomarker: PDL-1
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Expression of tissue biomarker: TILs
 Time: At baseline, on day of surgery or the 2nd biopsy (at days 23-29)
 Measure: Plasma methylation biomarker: PARP1 methylation in plasma cell-free DNA
 Time: At baseline, a day before surgery and 90 days after surgery
 Measure: Plasma methylation biomarker: BRCA1,2 methylation in plasma cell-free DNA
 Time: At baseline, a day before surgery and 90 days after surgery
 Measure: Plasma methylation biomarker: ERCC1 methylation in plasma cell-free DNA
 Time: At baseline, a day before surgery and 90 days after surgery
 Measure: Plasma methylation biomarker: RAD51C methylation in plasma cell-free DNA
 Time: At baseline, a day before surgery and 90 days after surgery
 Measure: Single-nucleotide polymorphisms: PARP-1 Val762Ala
 Time: Sample will be collected once at baseline
 Measure: Single-nucleotide polymorphisms: ERCC1 Asn118Asn (C/T)
 Time: Sample will be collected once at baseline
 Measure: Single-nucleotide polymorphisms:ERCC2 Lys751Gln (T/G)
 Time: Sample will be collected once at baseline
 Measure: Single-nucleotide polymorphisms: GSTP1 Ile105Val (A/G)
 Time: Sample will be collected once at baseline
 Measure: Single-nucleotide polymorphisms: XPD Lys751Gln (A/C, C/C)
 Time: Sample will be collected once at baseline
 Measure: Single-nucleotide polymorphisms: XRCC1 Arg399Gln (G/A)
 Time: Sample will be collected once at baseline
 Measure: Circulating tumor cells (CTCs) evaluated for DNA repair biomarkers
 Time: At baseline, a day before surgery and 90 days after surgery
 Measure: Circulating tumor cells (CTCs) evaluated for PD-L1
 Time: At baseline, a day before surgery and 90 days after surgery
HPO Nodes
Squamous cell carcinoma 
Genes 79
COL7A1  WNT10A  CDKN2A  GJB6  FDPS  LZTS1  GTF2H5  TERT  NLRP1  ERCC5  NUTM1  ERCC2  RSPO1  LAMA3  TMC8  CTSC  ING1  RECQL4  GJB2  ERCC2  TGFBR2  ERCC4  LAMC2  LAMB3  MPLKIP  TARS1  ERCC3  XPC  DOCK8  BLM  NTHL1  TYR  PSENEN  WRAP53  GTF2E2  IL7  RNF6  SLC17A9  TNFRSF10B  DKC1  POLH  RECQL4  BLM  BRD4  KRT5  TMC6  TERC  ERCC2  SASH1  WNT10A  MC1R  CIB1  SLC45A2  MVD  WRN  KRT14  DDB2  RNF113A  DCC  FERMT1  TYR  COL7A1  ERCC3  ERCC3  COL7A1  MMP1  COL7A1  GJB2  SLX4  MMP1  LMNA  MVK  TINF2  WWOX  GJB2  OCA2  CIB1  POLH  STAT1   hr>
Carcinoma 
Genes 16
POLE  MSH2  DKC1  SMARCA4  NLRP1  POLD1  CDKN1B  MLH1  RSPO1  FGFR3  BCL10  APC  STK11  PTEN  APC  KIT   hr>
Fever 
Genes 338
GPC3  RANBP2  ND5  BCL10  BIRC3  CCR1  AK2  TRNW  LACC1  PRSS2  ND6  QDPR  LIG4  PMP22  JAK2  NLRP3  TCIRG1  TRNV  BRCA2  ND4  ERCC2  TET2  RNF168  TREX1  CYP21A2  WIPF1  CFTR  LIPA  EIF2B2  STXBP2  HLA-B  AQP2  IBA57  TRNQ  IRF2BP2  HMGCL  STAT4  MEFV  WT1  EPB41  PML  PTS  CACNA1S  GCH1  G6PD  HLA-DRB1  GFI1  PEX6  TET2  SLC29A3  RARA  PMM2  ABCC2  TREX1  ERCC4  CRLF1  IFNGR1  NOD2  ND2  TNFAIP3  NLRC4  GPR35  CYBC1  HLA-DPA1  IL12B  CHEK2  SLC11A1  MYD88  TRIM28  HLA-B  TRNF  POU6F2  TBL1XR1  FIP1L1  SPTA1  CALR  EIF2B1  BCL2  EIF2B3  CYP11B2  COL1A1  TNFRSF1A  BCOR  HLA-DPB1  PRSS1  MYD88  BCR  MEFV  ORAI1  IFIH1  ABL1  TP53  LBR  IL10  NTRK1  STX11  IGHM  DIS3L2  RYR1  ZFHX2  NOTCH3  SH3KBP1  LPIN1  ACAT1  CASK  IL12A-AS1  SLC19A3  IL12A  NABP1  CALR  PSMB8  IL23R  RAG2  TSC1  GALC  MST1  IL6  CFH  IL2RG  AQP2  CYP11B2  ND6  ELP1  RUNX1  NUMA1  SPTB  NLRC4  CD3E  TMEM165  TCF3  SLC29A3  ATP13A2  ND5  ELANE  AVP  ALPL  STAT3  LIFR  SPTB  CD247  REST  SPTA1  LIFR  TNFRSF1A  CFHR1  EIF2B5  BLNK  HMGCL  IGH  CPT2  CYBB  F5  PTPN22  TRIP13  FOXP1  GAA  CYBA  RYR1  RAG1  GYPC  NLRP3  JAK2  TRNH  PSMB9  NCF1  RYR1  SLCO1B1  ND3  CD79B  LPIN2  RAG1  HTR1A  POMP  EIF2B4  SRP54  NLRC4  IRF8  ERAP1  TP53  TRNL1  STAT6  PRNP  ND4  NGLY1  LYST  ATP1A2  KIF1B  HAVCR2  CD3D  P4HTM  SPINK1  MPL  SH2B3  SCYL1  IGH  MIF  C1R  POLR3A  DCLRE1C  LRRC8A  TRNS2  IL7R  BCL6  NOD2  NLRP3  GATA2  NGF  ATM  IL2RG  PRKAR1A  ADAMTS13  IGLL1  PSTPIP1  NLRP12  KRT18  NLRP3  SPP1  TRNS1  CTLA4  CD79A  SLC4A1  IL7R  NPM1  AVPR2  RNASEH2B  PRKAR1A  CFHR3  AVPR2  JAK2  KLHL7  H19  IRF8  MPL  HAVCR2  TRIM28  FAS  CACNA1S  NLRP3  TRNL1  NCF2  SLC12A3  WAS  PSMB4  WT1  ND1  HLA-DRB1  TLR4  PTPN22  KCNJ1  COX1  STAT4  MVK  ERCC5  IKZF1  CCND1  CFTR  ADA2  ND1  CD27  NAB2  XIAP  PIK3R1  EDA  CHD7  IGH  LPIN2  ADAR  HLA-DRB1  TRNW  HLA-DRB1  COX3  SLC12A1  UNC13D  RNASEH2C  IL36RN  ATP1A3  C1QA  STING1  NLRP3  NKX2-1  TCF4  TRNK  TSC2  PTPN3  RNASEH2A  KLRC4  SCNN1B  XPA  UBAC2  BTK  COL1A1  HLA-B  COX2  RAB27A  CFTR  C4A  BCAP31  EPB42  RAG2  IRAK1  PRSS1  DDB2  SCNN1A  ELANE  HBB  DST  BTNL2  NLRP1  NCF4  MALT1  TH  SCNN1G  NLRC4  RB1  MEFV  MEFV  GLA  STAT3  SLCO1B3  ADA  ZBTB16  STIM1  ATP6  XPC  CTRC  ERCC3  KRT8  PRTN3  CTRC  CACNA1A  RMRP  FBP1  SPINK1  ANK1  STAT5B  NLRP3  SAMHD1  MLX   hr>