SNPMiner Trials by Shray Alag

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T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) L536R (2) L536Q (2) L536P (2) A143T (2) C19P (2) T97A (2) G3556C (2) Q24W (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) G193E (2) F876L (2) R479H (2) Q28D (2) G190E (2) R347H (2) K601E (2) G16R (2) R831C (2) G5271C (2) V75I (2) G681A (2) A270S (2) L63P (2) L869R (2) P236L (2) R831H (2) T13D (2) H1047L (2) C3670T (2) V34L (2) E255V (2) G469A (2) V57I (2) L144F (2) M233I (2) C825T (2) C8092A (2) G776C (2) G776V (2) F121Y (2) R172S (2) R172W (2) R172M (2) Q192R (2) R172G (2) E380Q (2) Y121F (2) K101P (2) R61C (2) V600M (2) F31I (2) K540E (2) K103H (2) R132V (2) D1270N (2) R1628P (2) R132S (2) V534E (2) R132G (2) R132L (2) K238N (2) G4655A (2) S112A (2) I84A (2) Y129S (1) G1388A (1) S77F (1) R20A (1) V140A (1) C686A (1) I1768V (1) E25K (1) K652E (1) C420R (1) S9304A (1) R337H (1) C421A (1) V189I (1) K304E (1) A7445G (1) D19H (1) L304P (1) Q36W (1) Y454S 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N1325S (1) V773M (1) Q812R (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G211A (1) D76Y (1) G1631D (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) A2143C (1) L101I (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) T1456G (1) R702W (1) T1565C (1) E1021K (1) K15210D (1) G82S (1) G779C (1) G840A (1) G779F (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) H180Q (1) L28P (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) R352W (1) G60D (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) L432V (1) V736A (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) G86R (1) Y143H (1) Y143C (1) R112H (1) Y143A (1) A227G (1) K101Q (1) R463C (1) G85E (1) L236P (1) A310V (1) T798M (1) S310Y (1) R222C (1) A4917G (1) T798I (1) E44D (1) L302P (1) Q30R (1) L786V (1) R287Q (1) P286R (1) D36Y (1) R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) A5147S (1) P46L (1) N700D (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) T81C (1) C316N (1) R1070Q (1) T1304M (1) I167V (1) I82A (1) Q54H (1) D13H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) L106V (1) A222V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) P392L (1) C1895T (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. Peritoneal Cavity Cancer
Interventions
  1. Drug: fluorouracil
  2. Drug: leucovorin calcium
  3. Drug: oxaliplatin
  4. 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
Conditions
  1. Squamous Cell Carcinoma of the Head and Neck
Interventions
  1. Drug: Olaparib
  2. Drug: Cisplatin
  3. Drug: Olaparib
  4. Drug: Durvalumab
MeSH:Carcinoma Carcinoma, Squamous Cell 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


HP:0001945: Fever
Genes 365
VANGL2 DCLRE1C ZBTB16 AVP PADI4 AK2 ND4 TRNL1 KLRC4 LPIN2 IL12A-AS1 NLRP3 CACNA1A NABP1 IL2RG EDA NUMA1 TSC1 ACAT1 HLA-DRB1 PRNP SPTB CFTR DDB2 CD247 WT1 NTRK1 NLRP3 HBB HMBS LAMA3 CFTR EIF2B5 NLRP12 AVPR2 CALR CHD7 HLA-B MVK STAT4 NLRP3 CCND1 RYR1 RYR1 STING1 TNFRSF1A CTRC MLX HLA-DPB1 XPA PRSS1 UNC13D NCF4 IRF8 GCH1 TRIP13 MPL NCF2 BIRC3 NLRC4 SCNN1A RB1 DIS3L2 CFH LAMC2 GPR35 JAK2 SLC29A3 CYP21A2 ADAR P4HTM TRNL1 PRF1 KIF1B JAK2 STAT5B GATA2 NLRP3 IL6 TRNQ RAG1 NCF1 CD3D COX2 BRCA2 TP53 PSTPIP1 PMM2 TICAM1 TET2 CACNA1S TSC2 HAVCR2 CYBA CTLA4 SCNN1G SPP1 SPTB POU6F2 RAB27A TCF4 STAT3 VANGL2 ATP6 LRRC8A CD244 IGHM NLRP3 TRIM28 CD79A IGLL1 CD79B LIFR FIP1L1 KCNJ1 TRNH BLNK PTPN22 CALR SPTA1 CHEK2 HLA-DRB1 LYST CYP11B2 ERCC3 XIAP CYBB CRLF1 NLRP3 IGH CD3E HLA-DRB1 IGH IL10 COX3 PRSS2 BCOR GLA RARA NLRC4 SLC4A1 MEFV PSMB8 BCL10 ATP13A2 CPT2 RNF168 ND1 PMP22 ND6 BCR MYD88 HLA-B G6PD ATM COL1A1 SLC19A3 EIF2B2 IRF8 ABCC2 CASK SLC22A4 CFHR3 TNFAIP3 GAA MEFV PSAP H19 ND5 FBP1 AQP2 SH3KBP1 IKZF1 SCYL1 CYTB TRNS2 IL2RG MEFV TRNS1 STAT6 COG6 RYR1 RAG2 CYBC1 WDR1 AVPR2 TREX1 IFIH1 ERCC2 GPC3 PRKAR1A ABL1 GYPC ND1 STAT3 BACH2 NOD2 EIF2B4 WIPF1 GALC ERCC5 HBB NGF RNASEH2A CD27 COL1A1 NLRP3 HTR1A ND4 ASAH1 LACC1 ELANE LIFR ND5 PSMB9 MEFV F5 TET2 FAS RIPK1 LPIN1 LAMB3 MTHFR IL7R STXBP2 ORAI1 SPINK1 UBAC2 TCIRG1 COX1 EIF2B1 MYD88 LBR PTPN3 DST GALC MST1 NOD2 STAT4 SLC29A3 ELANE ADA2 POMP TRNV QDPR EIF2B3 MALT1 LACC1 TMEM165 HLA-B TP53 RAG1 RNASEH2C AQP2 SLC12A1 FOXP1 NGLY1 TLR3 MTHFR IGH BCL2 SPTA1 RANBP2 TBL1XR1 MPL NLRP1 SCNN1B SLC11A1 ADAMTS13 ALPL MIF CYBC1 STAT2 KRT18 PSMB4 TLR4 STX11 IRAK1 TRNW UNC93B1 TRNW TH PEX6 BCL6 POLR3A KRT8 PRKAR1A ERAP1 REST TREX1 IBA57 NTRK1 TRNK IFNG EPB41 ELANE NPM1 RAG2 NAB2 TNFRSF1A TRAF3 ND6 HMGCL IRF2BP2 ZFHX2 C4A PML PRTN3 BTK ND2 IL12B RNASEH2B TRNF CFHR1 ANK1 KLHL7 BTNL2 JAK2 RMRP WAS PTPN22 MVK NKX2-1 TCF3 IL12A RUNX1 ELP1 TRIM28 CACNA1S GFI1 SAMHD1 BCAP31 MEFV IL10 CCR1 PIK3R1 ADA WT1 CYP11B2 HAVCR2 LIG4 ATP1A3 IL7R ERCC4 LPIN2 IL36RN EPB42 HMGCL SH2B3 IL23R HLA-DPA1 NFKBIL1 LIPA IFNGR1 SRP54 STIM1 TBK1 ATP1A2 PTS SLC12A3 CIITA HLA-DRB1 XPC PTPN22 ND3