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Report for Mutation K751Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

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 --- --- 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

2 Phase II(Window) Preoperative Study of Olaparib With Cisplatin or With Durvalumab (MEDI4736) or Alone or no Treatment in Patients With Histologically Proven Squamous Cell Carcinoma of the Head and Neck Who Are Candidates for Surgery.

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.

NCT02882308 Squamous Cell Carcinoma of the Head and Neck Drug: Olaparib Drug: Cisplatin Drug: Olaparib Drug: Durvalumab
MeSH: Carcinoma Carcinoma, Squamous Cell Squamous Ce Squamous Cell Carcinoma of Head and Neck
HPO: Carcinoma Squamous cell carcinoma

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
Carcinoma
Genes 16
POLE MSH2 DKC1 SMARCA4 NLRP1 POLD1 CDKN1B MLH1 RSPO1 FGFR3 BCL10 APC STK11 PTEN APC KIT
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