SNPMiner Trials by Shray Alag


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Report for Mutation R399Q

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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: XRCC1 Arg399Gln (G/A). --- Arg399Gln ---

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