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Report for Mutation K601E

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Efficacy of a Selective MEK (Trametinib) and BRAFV600E (Dabrafenib) Inhibitors Associated With Radioactive Iodine (RAI) for the Treatment of Refractory Metastatic Differentiated Thyroid Cancer With RAS or BRAFV600E Mutation

This is a multicentric prospective non-randomized phase II trial, with two independent arms: one for patients with RAS mutation and one for patients with BRAFV600E mutation.

NCT03244956 Metastatic Radioactive Iodine Refractory Thyroid Cancer Patients With RAS or BRAF Mutation Drug: Trametinib Drug: Dabrafenib Radiation: 131I Drug: rhTSH
MeSH: Thyroid Neoplasms Thyroid Diseases
HPO: Abnormality of the thyroid gland Neoplasm of the thyroid gland Thyroid adenoma Thyroid carcinoma Thyroid follicular adenoma

Inclusion Criteria: - Patients with thyroid carcinoma of follicular origin (papillary, follicular or poorly differentiated and their respective variants) - Known positive RAS (NRAS or KRAS or HRAS) or BRAFV600E or K601E mutation (determined on a previous analysis and/or on a representative formalin-fixed paraffin embedded (FFPE) tumor samples sent for central testing or on a biopsy sample sent for central testing). --- K601E ---

- Active infection requiring systemic therapy - Active malignancy (except for DTC, or definitively treated melanoma insitu, basal or squamous cell carcinoma of the skin, or carcinoma in-situ of the cervix or bladder) within the past 24 months - Any history of or concomitant medical condition that, in the opinion of the investigator, would compromise subject's ability to safely complete the protocol - Females who are pregnant or breastfeeding - Patients with an injection of radio-contrast agent within 8 weeks prior enrolment - Previous history of retinal vein occlusion - Previous history of central serious retinopathy - Known hypersensitivity to the study drugs or to any of the excipients Inclusion Criteria: - Patients with thyroid carcinoma of follicular origin (papillary, follicular or poorly differentiated and their respective variants) - Known positive RAS (NRAS or KRAS or HRAS) or BRAFV600E or K601E mutation (determined on a previous analysis and/or on a representative formalin-fixed paraffin embedded (FFPE) tumor samples sent for central testing or on a biopsy sample sent for central testing). --- K601E ---

Primary Outcomes

Description: Propotion of patients with a best overall response of Complete Response (CR) or a Partial Response (PR)

Measure: Objective Response Rate (ORR)

Time: Evaluated 6 months after the first dose of trametinib or trametinib and dabrafenib followed by RAI treatment in each arms

2 A Phase I/II Study of Binimetinib With Encorafenib in Patients With Non-V600 Activating BRAF Mutant Advanced Malignancies

The goal of this trial is to test the safety and efficacy of an innovative combination aimed to more profoundly inhibit ERK signaling in tumors.

NCT03843775 Advanced BRAF Mutant Cancers Drug: Binimetinib Drug: Encorafenib

- Patient's tumor must harbor an activating BRAF mutation (listed in Table 4 or approved by the study Principal Investigator) or a fusion involving the kinase domain of BRAF - Mechanistically validated activating non-V600 BRAF mutants - P367L/S - G464V/E - G469A/V/R - L485W - N486_A489delinsK - N486_P490del - E586K - L597Q/V/S - T599TT/TS - T599I/K - V600_K601delinsE - K601E/N/T - K601_S602delinsNT - BRAF kinase duplication - Fusions involving BRAF kinase domain - Eastern Cooperative Oncology Group (ECOG) Performance Status ≤ 2 - Adequate bone marrow, organ function and laboratory parameters: - Absolute neutrophil count (ANC) ≥ 1.5 x 109/L - Hemoglobin (Hgb) ≥ 8 g/dL with or without transfusions - Platelets (PLT) ≥ 75 x 109/L without transfusions - AST and/or ALT ≤ 2.5 × upper limit of normal (ULN); patient with liver metastases ≤ 5 ×ULN - Total bilirubin ≤ 1.5 × ULN and < 2 mg/dL (Note: Patients who have a total bilirubin level > 1.5 x ULN will be allowed if their indirect bilirubin level is ≤ 1.5 x ULN) - Serum Creatinine ≤ 1.5 x ULN, or calculated creatinine clearance (determined as per Cockcroft-Gault) ≥ 50 mL/min at screening - Adequate cardiac function: - left ventricular ejection fraction (LVEF) ≥ 50% as determined by a multigated acquisition (MUGA) scan or echocardiogram - QTc interval ≤ 480 ms (preferably the mean from triplicate ECGs) - Able to take oral medications - Patient is deemed by the Investigator to have the initiative and means to be compliant with the protocol (treatment and follow-up) - Female patients are either postmenopausal for at least 1 year, are surgically sterile for at least 6 weeks, or must agree to take appropriate precautions to avoid pregnancy from screening through 30 days after the last dose of study drug/treatmentif of childbearing potential (Note: Permitted contraception methods listed in Section 9.3 should be communicated to the patients and their understanding confirmed. --- P367L --- --- G464V --- --- G469A --- --- L485W --- --- E586K --- --- L597Q --- --- T599I --- --- K601E ---

Primary Outcomes

Description: National Cancer Institute Common Terminology Criteria for Adverse Events (NCI-CTCAE), Version 5,

Measure: dose-limiting toxicities (DLTs)

Time: 1 year

Description: Per RECIST Version 1.1

Measure: objective response rate (Phase II)

Time: 1 year


HPO Nodes


Thyroid adenoma
Genes 19
CDKN1B FAS CASP10 CDC73 MSH3 FAS FASLG CDKN2B MEN1 CDKN1A AKT1 MSH3 PIK3CA RASGRP1 PRKAR1A PTEN CDKN1B PRKCD CDKN2C
Abnormality of the thyroid gland
Genes 465
UBR1 PTEN CLPB TBC1D24 BIRC3 HNF1B TMEM67 BCOR OPA1 RAI1 TRNL1 MMP2 NNT LHX4 SLC16A2 POU2AF1 IQSEC2 TGIF1 GREM1 TREX1 CDON POU1F1 WDR11 DICER1 SALL1 PROKR2 RASGRP1 PAX8 DNAH1 NSDHL XRCC4 SDHD PRKCD LRP4 PTRH2 LEPR RET IYD PCSK1 KEAP1 DICER1 FOXI1 POLG PMM2 FGF8 MARS1 ENPP1 CDKN2C GPC1 TSHR DISP1 TSHR GLI3 FOXE1 FOXA2 TBX1 NKX2-1 EYA1 ALG8 HIRA CEP57 MLXIPL HSD17B3 CDH23 LEP CLIP2 TRNF MSTO1 LHX3 BUB1B FLCN PDE4D SEMA3C LIG4 PAX8 GLI2 TRAPPC9 MEN1 IFIH1 SRGAP1 CTLA4 DUOX2 KISS1R KCNJ18 PTEN TBL2 ALMS1 ROBO1 AIP MINPP1 DCAF17 BMPR1A FANCI SPIB PIK3C2A ARVCF MC2R MST1 SEC24C TG IL2RG SUFU HESX1 GNAS THRB KCNJ10 JMJD1C IL12RB1 MEN1 TRNS1 ND5 MMEL1 SEMA3D COMT TSHR TSHR SUFU LIFR SKI STAT3 APC TRNL2 TTC37 INSR GTF2I TDGF1 NRTN TXNRD2 TWNK FOXP1 TBX2 SMARCB1 TRNH PMS2 IDH1 PROP1 PRDM16 IYD LHX4 GNAS NNT TSHR PAX8 DLL1 SLC26A4 TRNL1 NKX2-1 GNAS SLC5A5 LRBA POLG TSHR GABRD GP1BB SIX3 POLR3A POU1F1 SKIV2L VPS13A KRAS NODAL GNAS XRCC4 MSH2 GATA6 IGSF1 CHD7 SEMA3E EDNRB TTC7A NRAS DDOST SLC26A4 DUOXA2 TRNS1 CACNA1S TSHB RAI1 CDKN1A RPS20 KCNJ18 SRD5A3 FOXP3 FBLN5 TRH TPO HPD GPR161 KAT6B FGFR1 COX1 THRB SAA1 STAR MRAP EDN3 NKX2-5 SCN4A FOXE1 CDC73 TG TRNW COX3 EFEMP2 RREB1 FOXE1 TSHR LHX4 NKX2-5 IL12A RNASEH2A DICER1 TGFBR2 NKX2-5 COX2 PAX8 MINPP1 FAS APC LIG4 DUOX2 POLR1D USP9X GLI3 RRM2B FMR1 PLAA C1S SASH1 BTNL2 SEC23B NLRP1 HRAS NKX2-1 NIN GABRA3 ADA TCOF1 FASLG ZFAT CDC73 CLCNKB PROP1 THRB RMRP APC SLC5A5 PRKAR1A FOXI1 RCBTB1 BCL10 BAZ1B APC LIG4 OTX2 WFS1 POU3F4 GAS1 HSD17B3 ND4 RFC2 RERE DACT1 MSH3 PIK3CA MMP14 THRA SLC26A4 ALX4 IDH2 FAN1 TWNK TRNQ TBX1 MSH3 GTF2IRD1 RAI1 CDKN2B PROP1 HESX1 TRNN C1QBP ARNT2 RET CDON CCBE1 CDH23 TNFSF15 RBM28 BRAF IFNG SOX3 SUGCT ITCH BMP4 PRKAR1A GPR35 STAT1 CTNS CASP10 CACNA1C LHX3 TRIP13 B3GLCT JAG1 KIAA0556 DEAF1 KDM6A TSC1 CTNNB1 PTEN FUCA1 ELN GLIS3 PLVAP FLCN KMT2D PTCH1 SIX1 BUB3 TSC1 RET LEPR PLCG2 SLC25A4 FUT8 EXOSC2 DNM1L PDGFB WFS1 POU1F1 ELN SRY MLH3 ND6 DUOXA2 SETBP1 STEAP3 FOXH1 TG DMXL2 HNF4A KAT6B UFD1 FMR1 EIF2AK3 PMS1 TNPO3 ECE1 CACNA1S TSC2 APOE AKT1 SGPL1 WDR4 RAG1 SDHC MLH1 MCM8 LMNA TF POLG2 EXT2 TSC2 NF2 BUB1 PIEZO1 FOXP3 PPP1R15B MSH6 RET APC HABP2 KCNJ10 FOXD3 LHX4 GLI2 CASR ZIC2 TRNW ARL6IP6 DCLRE1C FAS HESX1 TRNS2 IL7R STUB1 PRKAR1A POLR1C NPHS1 PIK3CA POMC ALMS1 FOXE1 LIMK1 TSHB RNASEH2B GNE STAT1 GDNF AIRE APC PDE4D SHH AKT1 TPO IL2RA HLA-DRB1 PROP1 FDX2 TRHR ACP5 SOX3 SLC12A3 HABP2 CDC73 DNAJC19 ND1 CDKN1B CHD7 IGH ADAR SLC26A4 MEN1 FOXE1 RNASEH2C TANGO2 EPCAM NKX2-1 TCF4 KLLN ADAMTSL1 SEC23B SEMA4A ZBTB20 PIK3CA GCH1 FLII RAG2 BMPR1A HBB USP9X ABCC6 SALL1 CTNS WRN PTEN MALT1 PTEN SDHB KCNAB2 MSTO1 DUOX2 CEP57 IRF5 CP TBX1 CDKN1B TSHR GATA1 TONSL SAMHD1 PHF21A ATRX DCLRE1C