SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation V600D

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 9 clinical trials

Clinical Trials


1 An Open-Label, Multi-Center Study to Investigate the Objective Response Rate, Safety, and Pharmacokinetics of GSK1120212, a MEK Inhibitor, in BRAF Mutation-positive Melanoma Subjects Previously Treated With or Without a BRAF Inhibitor

MEK113583 is a Phase II open-label, multi-site study to investigate the objective response rate, safety, and pharmacokinetics of GSK1120212 in subjects with BRAF mutation-positive melanoma who were previously treated with or without a BRAF inhibitor. GSK1120212 is a potent and highly selective inhibitor of MEK activation and kinase activity.

NCT01037127
Conditions
  1. Cancer
Interventions
  1. Drug: GSK1120212
MeSH:Melanoma
HPO:Cutaneous melanoma Melanoma

- Documented positive BRAF mutation (V600E, V600K, or V600D). --- V600E --- --- V600K --- --- V600D ---

Primary Outcomes

Description: Best confirmed response was assessed by the Investigator per Response Evaluation Criteria in Solid Tumors (RECIST) version 1.1. Best response was measured either as a complete response (CR), defined as the disappearance of all target lesions and pathological lymph nodes <10 millimeters (mm), or a partial response (PR), defined as at least a 30% decrease in the sum of the diameters of target lesions. To be assigned a status of confirmed CR or PR, a confirmatory disease assessment was required no less than 28 days after the criteria for response were first met.

Measure: Number of Participants With Best Confirmed Response

Time: From Baseline (Day 1) until the time of the first documented evidence of a confirmed complete response or partial response (up to approximately 25 weeks)

Description: The number of participants with best confirmed response was analyzed for the following subgroups of participants previously treated with standard therapy but not BRAF inhibitors: (1) participants with prior (before the start of this study) brain metastases (mets); (2) participants without prior brain mets; (3) participants with BRAF mutation V600E; (4) participants with BRAF mutation V600E and no prior brain mets; and (5) participants with BRAF mutation V600K. Objective response was assessed per RECIST version 1.1. Objective response was measured either as CR, defined as the disappearance of all target lesions and pathological lymph nodes <10 mm, or PR, defined as at least a 30% decrease in the sum of the diameters of target lesions. To be assigned a status of confirmed CR or PR, a confirmatory disease assessment was required no less than 28 days after the criteria for response were first met. Brain metastasis is a cancer that has spread to the brain from another location of the body.

Measure: Number of Participants With Best Confirmed Response in the Indicated Subgroups of Participants Previously Treated With Standard Therapy But Not BRAF Inhibitors

Time: From Baseline (Day 1) until the time of the first documented evidence of a confirmed CR or PR (up to approximately 25 weeks)

Description: An interim analysis was performed using data collected approximately 12 and 13 weeks after the 30th participant was enrolled in the prior BRAF inhibitor and prior standard therapy groups, respectively. The best unconfirmed response by the investigator per RECIST version 1.1 was assessed. The study design permitted stopping the study for futility if <3 best confirmed responses were observed in the first 30 participants of each treatment arm after completing the first post-dose assessment at Week 8. Best response was measured as either a CR, defined as the disappearance of all target lesions and pathological lymph nodes <10 millimeters, or a PR, defined as at least a 30% decrease in the sum of the diameters of target lesions.

Measure: Number of Participants With Best Unconfirmed Response at the Time of the Interim Analysis (Week 8)

Time: Week 8

Secondary Outcomes

Description: Human plasma samples were analyzed for trametinib using a validated analytical method.

Measure: Mean Plasma Concentrations

Time: Day 15, pre-dose, 0.5-2 hours (hrs) post-dose, 2-4 hrs post-dose, and 4-8 hrs post-dose; Week 4, pre-dose; Week 8, pre-dose; Week 12, pre-dose

Description: An AE is defined as any untoward medical occurrence in a subject or clinical investigation subject, temporally associated with the use of a medicinal product, whether or not considered to be related to the medicinal product. AE and serious AE (SAE) data were collected from the start of the investigational product and continued until the End of Treatment Visit. Refer to the general Adverse AE/SAE module for a complete list of AEs and SAEs.

Measure: Number of Participants With Any Adverse Event (AE)

Time: From the date of the first dose of study medication until 28 days after the last dose (up to 477 days)

Description: Duration of tumor response is defined as the time from the first documented evidence of a CR or PR to disease progression (at least a 20 percent increase in the sum of diameters of target lesions, taking as reference the smallest sum on study; unequivocal progression of non-target lesions, or the appearance of a new lesion) or death due to any cause. No participants who were previously treated with BRAF inhibitors had a CR, defined as the disappearance of all target lesions and pathological lymph nodes <10 millimeters, or a PR, defined as at least a 30% decrease in the sum of the diameters of target lesions; thus, no duration of response data can be presented.

Measure: Duration of Tumor Response

Time: From the time of the first documented evidence of a confirmed CR or PR until disease progression or death due to any cause (up to approximately 40 weeks)

Description: PFS is defined as the interval between the treatment start date and the earliest date of disease progression (at least a 20 percent increase in the sum of diameters of target lesions, taking as reference the smallest sum on study; unequivocal progression of non-target lesions, or the appearance of a new lesion) or death due to any cause, whichever occurred first. Participants who had not progressed or died were censored at the date of the last adequate tumor assessment at the time of the cut-off.

Measure: Progression-free Survival (PFS)

Time: Baseline (Day 1) until the time of disease progression or death due to any cause (up to approximately 57 weeks)

Description: PFS was analyzed for the following subgroups of participants previously treated with standard therapy but not BRAF inhibitors: (1) participants with prior (before the start of this study) brain metastases (mets); (2) participants without prior brain mets; (3) participants with BRAF mutation V600E; (4) participants with BRAF mutation V600E and no prior brain mets; and (5) participants with BRAF mutation V600K. Per RECIST version 1.1, PFS is defined as the interval between the treatment start date and the earliest date of disease progression (at least a 20 percent increase in the sum of diameters of target lesions, taking as reference the smallest sum on study; unequivocal progression of non-target lesions, or the appearance of a new lesion) or death due to any cause, whichever occurred earliest. Brain metastasis is a cancer that has spread to the brain from another location of the body.

Measure: PFS in the Indicated Subgroups of Participants Previously Treated With Standard Therapy But Not BRAF Inhibitors

Time: Baseline (Day 1) until the time of disease progression or death due to any cause (up to approximately 57 weeks)

Description: Overall survival is defined as the time from the treatment start date until death due to any cause. Participants who had not died were censored at the date of the last adequate tumor assessment at the time of the cut-off.

Measure: Overall Survival

Time: Baseline (Day 1) until death due to any cause (up to 134 weeks)

Description: Overall survival (defined as the time from the treatment start date until death due to any cause) data data are presented as the number of participants who were alive 6 months, 12 months and 24 months after Baseline. Participants who had not died were censored at the date of the last adequate tumor assessment at the time of the cut-off.

Measure: Number of Participants Who Survived Until 6 Months, 12 Months and 24 Months From Baseline

Time: Month 6, Month 12 and Month 24

Description: Tumor progression was assessed as disease progression (DP), defined as at least a 20 percent increase in the sum of diameters of target lesions (representative of all involved organs), taking as reference the smallest sum on study; unequivocal progression of non-target lesions; or the appearance of a new lesion. Because melanoma often progresses to the brain/central nervous system (CNS) and this study enrolled approximately 20% participants with prior brain metastases, tumor progression in the brain/CNS was summarized. Paticipants could have been included in more than one category.

Measure: Number of Participants With Tumor Progression

Time: Baseline (Day 1) until tumor progression (up to approximately 57 weeks)

2 An Open-Label Phase II Study of the Combination of GSK2118436 and GSK1120212 in Patients With Metastatic Melanoma Which is Refractory or Resistant to BRAF Inhibitor

The goal of this clinical research study is to learn if the combination of 2 drugs dabrafenib and trametinib can help to control melanoma that has or has not spread to the brain. The safety of this drug combination will also be studied. Dabrafenib is designed to block the mutated BRAF protein. This mutation is only found in moles of the skin and in melanoma cells. By blocking the protein, the drug may slow the growth of or kill cancer cells that have the protein. Trametinib is designed to block certain proteins that cause cancer cells to grow and multiply. This may cause the cancer cells to die.

NCT01619774
Conditions
  1. Melanoma
Interventions
  1. Drug: GSK2118436
  2. Drug: GSK1120212
MeSH:Melanoma
HPO:Cutaneous melanoma Melanoma

3. BRAF mutation-positive melanoma (i.e., V600E, V600K or V600D) 4. For Cohort A, patients must have easily accessible tumor for a mandatory biopsy. --- V600E --- --- V600K --- --- V600D ---

Primary Outcomes

Description: Overall response rate defined as percentage of subjects with a confirmed complete response (CR) or a partial response (PR) at any time as per Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 criteria. Clinical responses will be evaluated using RECIST 1.1 criteria after every 2 cycles (8 weeks). Complete Response (CR): Disappearance all lesions; pathological lymph nodes reduction in short axis to <10 mm. Partial Response (PR): >30% decrease in sum diameters of lesions, reference baseline sum diameters. Progressive Disease (PD): >20% increase in sum diameters of lesions, reference smallest sum on study (includes baseline sum if smallest on study); relative increase of 20%, sum must also demonstrate absolute increase of >5 mm; appearance of 1 or > new lesions considered progression). Stable Disease (SD): Neither sufficient shrinkage for PR nor sufficient increase for PD, reference smallest sum diameters while on study.

Measure: Overall Response Rate (ORR)

Time: Evaluation every 8 weeks (2 cycles) up to 12 months

Description: Clinical responses evaluated using RECIST 1.1 criteria after every 2 cycles (8 weeks). Complete Response (CR): Disappearance all lesions; pathological lymph nodes reduction in short axis to <10 mm. Partial Response (PR): >30% decrease in sum diameters of lesions, reference baseline sum diameters. Progressive Disease (PD): >20% increase in sum diameters of lesions, reference smallest sum on study (includes baseline sum if smallest on study); relative increase of 20%, sum must also demonstrate absolute increase of >5 mm; appearance of 1 or > new lesions considered progression). Stable Disease (SD): Neither sufficient shrinkage for PR nor sufficient increase for PD, reference smallest sum diameters while on study.

Measure: Number of Participants by Response

Time: Evaluation every 8 weeks (2 cycles) up to 12 months

Secondary Outcomes

Description: Duration of response defined for subjects with a confirmed complete response (CR) or partial response (PR), as time from the first documented evidence of a CR or PR until the first documented disease progression or death due to any cause. Progression free survival (PFS) estimated and summarized using the method of Kaplan and Meier.

Measure: Progression-Free Survival (PFS)

Time: Evaluation every 8 weeks (2 cycles) up to 12 months

3 Screening Protocol to Detect BRAF V600 Mutation-Positive Patients for Enrollment Into Clinical Research Studies of Vemurafenib

This is a screening study to detect BRAF V600 mutation-positive patients for enrollment into clinical research studies of Zelboraf (vemurafenib). Tumor samples will be collected and analyzed from eligible patients with solid tumors (other than metastatic melanoma or papillary thyroid cancer) or multiple myeloma. All institutions with identified patients as defined by this screening protocol will have potential access to the separate vemurafenib protocol MO28072.

NCT01804140
Conditions
  1. Multiple Myeloma, Neoplasms
MeSH:Multiple Myeloma
HPO:Multiple myeloma

V600E, V600K, V600D, and V600R are the different types of BRAF V600 mutations.. Inclusion Criteria: - Histologically confirmed solid tumors (excluding melanoma and papillary thyroid cancer) or multiple myeloma refractory to standard therapy or for which standard or curative therapy does not exist or is not considered appropriate by the investigator - Patients with multiple myeloma must have received at least one line of prior systemic therapy for the treatment of multiple myeloma Exclusion Criteria: - Eastern Cooperative Oncology Group (ECOG) performance status > 2 - Uncontrolled concurrent malignancy - Active or untreated CNS metastases - History of known carcinomatous meningitis - Prior treatment with a BRAF or MEK inhibitor (prior sorafenib is allowed) - Uncontrolled, severe medical illness or condition as defined in protocol MO28072 Inclusion Criteria: - Histologically confirmed solid tumors (excluding melanoma and papillary thyroid cancer) or multiple myeloma refractory to standard therapy or for which standard or curative therapy does not exist or is not considered appropriate by the investigator - Patients with multiple myeloma must have received at least one line of prior systemic therapy for the treatment of multiple myeloma Exclusion Criteria: - Eastern Cooperative Oncology Group (ECOG) performance status > 2 - Uncontrolled concurrent malignancy - Active or untreated CNS metastases - History of known carcinomatous meningitis - Prior treatment with a BRAF or MEK inhibitor (prior sorafenib is allowed) - Uncontrolled, severe medical illness or condition as defined in protocol MO28072 Multiple Myeloma, Neoplasms Multiple Myeloma null --- V600E --- --- V600K --- --- V600D ---

Primary Outcomes

Description: Formalin-fixed paraffin-embedded (FFPEs) tumor samples (at least 5 serially-cut, unstained, 5 micrometer [μm] sections) were collected from eligible participants who consented to participate in the study. FFPE tumor samples were either from archived sections (from the initial diagnosis of cancer) or from fresh biopsies that were performed according to local standards. Tumor samples were then sent to a central laboratory to identify activating BRAF V600 mutations. Identification of mutations was done using bidirectional direct Sanger sequencing procedure.

Measure: Percentage of Participants With BRAF V600 Mutation Positivity in Tumor Samples by Cancer Type

Time: Up to 1 year

Description: FFPEs tumor samples (at least 5 serially-cut, unstained, 5 μm sections) were collected from eligible participants who consented to participate in the study. FFPE tumor samples were either from archived sections (from the initial diagnosis of cancer) or from fresh biopsies that were performed according to local standards. Tumor samples were then sent to a central laboratory to identify activating BRAF V600 mutations. Identification of mutations was done using bidirectional direct Sanger sequencing procedure. V600E, V600K, V600D, and V600R are the different types of BRAF V600 mutations.

Measure: Number of Participants Classified Based on Different Types of BRAF V600 Mutation Patterns in Tumor Samples

Time: Up to 1 year

4 BRAF, Autophagy and MEK Inhibition in Metastatic Melanoma: A Phase I/II Open-Label Trial of Dabrafenib, Trametinib and Hydroxychloroquine in Patients With Advanced BRAF Mutant Melanoma

The primary purpose of this study is to determine the maximum tolerated dose (MTD) and preliminary safety of hydroxychloroquine (HCQ) when administered in conjunction with oral dabrafenib and trametinib (D+T) in patients with advanced BRAF mutant melanoma.

NCT02257424
Conditions
  1. Advanced BRAF Mutant Melanoma
Interventions
  1. Drug: Trametinib 2 mg daily
  2. Drug: hydroxychloroquine (HCQ)
  3. Drug: dabrafenib 150 mg orally twice a day
MeSH:Melanoma
HPO:Cutaneous melanoma Melanoma

- Patients must have histologically confirmed melanoma unresectable Stage III or Stage IV positive for BRAF V600E, V600K, V600R or V600D by a CLIA approved assay. --- V600E --- --- V600K --- --- V600R --- --- V600D ---

Primary Outcomes

Description: Phase 1: Maximum tolerated dose (MTD) = a) the dose producing Dose Limiting Toxicity (DLT) in 2/6 patients, or b) the dose level below the dose which produced DLT in ≥ 2/3 patients, or in ≥ 3/6 patients

Measure: Phase 1: To determine the maximum tolerated dose

Time: 5 weeks

Description: Phase 2: Progression free survival (PFS) is defined as the duration of time from start of treatment to time of first progression, death due to any cause or last patient contact alive and progression-free

Measure: Phase 2: To assess the clinical efficacy of HCQ+D+T by 1 year PFS rate.

Time: 1 year

5 A Phase II, Randomised, Open Label Study of Neoadjuvant Dabrafenib, Trametinib and / or Pembrolizumab in BRAF V600 Mutant Resectable Stage IIIB/C Melanoma

This study aims to determine which of 3 drug combinations best reduces the size of tumour prior to surgery for advanced melanoma and prevents the recurrence of melanoma after surgery.

NCT02858921
Conditions
  1. Melanoma
Interventions
  1. Drug: Dabrafenib
  2. Drug: Trametinib
  3. Drug: Pembrolizumab
MeSH:Melanoma
HPO:Cutaneous melanoma Melanoma

V600D, V600K, V600R, V600M). --- V600D ---

Primary Outcomes

Description: Proportion of patients with complete absence of residual melanoma cells in the planned resected tumour site(s) at week 6 surgery.

Measure: Pathological response rate

Time: From baseline to 6 weeks

Secondary Outcomes

Description: Proportion of patients with complete and partial responses at 6 weeks compared to baseline per RECIST guidelines for each treatment arm.

Measure: Objective clinical (RECIST) response rate

Time: From baseline to 6 weeks

Description: The amount of time that patients are disease free from the time of surgery at 6 weeks from study entry

Measure: Relapse free survival

Time: 5 years

Description: The proportion of patients who are alive from the time of study entry

Measure: Overall survival

Time: 5 years

Description: The number of patients (and the number of episodes) who develop a post operative infection of the surgical wound requiring intravenous antibiotics and/or wound drainage

Measure: Incidence of post operative infection

Time: 6 weeks

Description: The number of patients (and the number of episodes) who develop a seroma at the surgical site that requires any intervention and the volume of seroma drainage

Measure: Incidence of post operative seroma formation

Time: 6 weeks

Description: The number of days that a wound drain remains in situ from the time of surgery

Measure: Duration of post operative wound drainage time

Time: 6 weeks

Description: The number of patients (and the number of episodes) who have a bleed from the post operative surgical wound that requires a blood transfusion or return to theatre to stop the bleeding

Measure: Incidence of post operative bleeding requiring return to theatre or transfusion

Time: 6 weeks

Description: The change, if any, in the surgeon's assessment of 'operability' from baseline opinion (based on clinical and imaging examination) to time of operation

Measure: Comparison of surgeon's opinion of operability evaluated at baseline to time of surgery

Time: Baseline and 6 weeks

Description: The number of study treatment related adverse events of all Common Terminology Criteria for Adverse Events (CTCAE) grades from the time of starting study treatment to the time of permanent discontinuation of study treatment

Measure: Incidence of any treatment-emergent adverse events

Time: 52 weeks

Description: The effects of study treatment on the body's immune cells within the tumour tissue prior to surgery

Measure: Characterisation of the immunophenotype of tumour infiltrating cells in melanoma tissue

Time: Baseline, Week 1, Week 2, Week 6

Description: The effects of study treatment on the degree of necrosis and genetic markers in tumour tissue prior to surgery

Measure: Description of the morphological assessment of melanoma tissue

Time: Baseline, Week 1, Week 2, Week 6

Description: The effects of study treatment on the baseline function of RNA expression in tumour tissue prior to surgery

Measure: Description of the RNA expression profile of melanoma tumour

Time: Baseline, Week 1, Week 2, Week 6

Description: The effects of study treatment on the number and type of white cells in the blood

Measure: Measurement of leucocyte subpopulations in peripheral blood

Time: Baseline, Week 1, Week 2, Week 6

Description: The levels of melanoma DNA that is circulating in the blood stream and the changes during study treatment

Measure: Measurement of circulating tumour DNA

Time: Baseline, Week 1, Week 2, Week 6

Other Outcomes

Description: The activity of melanoma tissue assessed by the uptake of fludeoxyglucose (18F) in tumour cells viewed using positron emission tomography (PET) and how well this corresponds to the findings from the pathological examination of completely excised tumour tissue

Measure: Concordance of metabolic response measured by pathological response

Time: 6 weeks

Description: The activity of melanoma tissue assessed by the uptake of fludeoxyglucose (18F) in tumour cells viewed using positron emission tomography (PET) and how well this corresponds to the assessment of tumour size and extent using computed tomography and magnetic resonance imaging scans

Measure: Concordance of metabolic response measured by RECIST response

Time: 52 weeks

Description: he findings from the pathological examination of completely excised tumour tissue and how well this corresponds to the assessment of tumour size and extent using computed tomography and magnetic resonance imaging scans

Measure: Concordance of pathological response measured by RECIST response

Time: 6 weeks

Description: The activity of recurrent melanoma tissue assessed by the uptake of fludeoxyglucose (18F) in tumour cells viewed using positron emission tomography (PET) and how well this corresponds to the assessment of tumour size and extent using computed tomography and magnetic resonance imaging scans

Measure: Concordance of metabolic response with RECIST response at relapse

Time: 52 weeks

Description: The application of two different criterion to establish the tumour burden as assessed with computed tomorgraphy and magnetic resonanse imaging

Measure: Concordance of immune related response criteria (irRC) with RECIST response

Time: Weeks 6 and 52

Description: Characterisation of the bacterial diversity and composition in stool samples at baseline, prior to surgery at week 6, week 24 and at relapse.

Measure: Correlation of the gut microbiome with RECIST response to immunotherapy.

Time: Baseline, Week 6, week 24, at relapse if this occurs within 5 years from study entry

Description: Diet plays a significant role in shaping the intestinal microbiome. Nutrition may influence the gut microbiome and response to immunotherapy.

Measure: Characterisation of self-reported dietary habits (including use of oral probiotics) and correlation with the gut microbiome.

Time: Baseline

6 A Biospecimen Collection Study to Evaluate the Pharmacokinetic, Pharmacodynamic, and Resistance Profile to Trametinib and Dabrafenib in BRAF-V600E Mutated Recurrent Gliomas

This is a surgical biospecimen collection study. The purpose of this study is to understand how much of two drugs (dabrafenib and trametinib) are able to penetrate brain tumors and turn off the RAF signaling pathway. This is important because these drugs are currently FDA approved for other tumors and may have efficacy in brain tumors with the BRAF V600E mutation.

NCT03593993
Conditions
  1. Glioma
  2. BRAF V600E
  3. Pleomorphic Xantho-Astrocytoma
  4. Glioblastoma
Interventions
  1. Procedure: Surgical Cohort
MeSH:Glioblastoma Glioma Astrocytoma
HPO:Astrocytoma Glioblastoma multiforme Glioma Subependymal giant-cell astrocytoma

Allowable mutations include V600E, V600K, V600R, and V600D. --- V600E --- --- V600K --- --- V600R --- --- V600D ---

Primary Outcomes

Description: Obtain single time-point concentration of dabrafenib in enhancing brain tissue (ng/mL) using liquid chromatography/mass spectrometry with one single, random sample

Measure: Concentration of dabrafenib in brain tumor

Time: Day 1

Description: Obtain single time-point concentration of trametinib in enhancing brain tissue (ng/mL) using liquid chromatography/mass spectrometry with one single, random sample

Measure: Concentration of trametinib in brain tumor

Time: Day 1

7 Binimetinib and Encorafenib for the Treatment of Advanced Solid Tumors With Non-V600E BRAF Mutations

This is a single-centre, open-label Phase II study of the investigational drugs binimetinib and encorafenib that will be taken my mouth (orally) daily in adult patient with advanced and/or metastatic solid tumors for which no other standard therapy is available. The main purpose is to evaluate the objective response rate (ORR) of the study drugs in the growth of the cancer in patients with class 2 and 3 BRAF mutations.

NCT03839342
Conditions
  1. Solid Tumor
Interventions
  1. Drug: Binimetinib
  2. Drug: Encorafenib
MeSH:Neoplasms
HPO:Neoplasm

6. Malignancy must express one of the following BRAF alterations: BRAF mutation affecting codon: 241, 257, 367, 462, 463, 464, 466, 467, 469, 485, 581, 586, 594, 595, 596, 597 598, 599, 601; V600 BRAF mutations: V600K (for any malignancy except melanoma), V600D, V600M, V600R; BRAF deletions ie. --- V600K --- --- V600D ---

Primary Outcomes

Measure: Objective response rate defined as per RECIST v1.1.

Time: 2.5 years

Secondary Outcomes

Measure: Number of participants with toxicities as per NCI CTCAE v5.0.

Time: 2.5 years

Measure: Disease progression defined as per RECIST v1.1 and monitored throughout the study period. Progression Free Survival defined as time from study registration to disease progression or death from any cause.

Time: 2.5 years

Measure: Disease Control Rate defined in accordance with RECIST v1.1, as the percentage of patients who achieve a complete response, partial response or stable disease after 24 weeks of treatment.

Time: 2.5 years

Measure: Overall survival measured as the length of time from the first day of treatment to the day of death. Median OS will be reported.

Time: 2.5 years

Measure: Change in circulating tumor DNA (ctDNA) profiles measured by serial analysis of ctDNA profiles at baseline, mid-cycle 1, with each subsequent cycle, and at progression, validated by comparison to molecular profiles of corresponding fresh tumor biopsies

Time: 2.5 years

Measure: Number of fresh tumor biopsies collected, frozen, and stored for subsequent development of patient derived xenografts.

Time: 2.5 years

Measure: Number of identified molecular mechanisms of acquired resistance to binimetinib and encorafenib in tumors with non-V600E BRAF mutations, measured by analysis of molecular profiles and validated with PDX models in vitro and in vivo.

Time: 2.5 years

8 MATCH Treatment Subprotocol H: Phase II Study of Dabrafenib and Trametinib in Patients With Tumors With BRAF V600E or V600K Mutations (Excluding Melanoma, Thyroid Cancer, Colorectal Adenocarcinoma, and Non-Small Cell Lung Cancer)

This phase II MATCH treatment trial identifies the effects of trametinib and dabrafenib in patients whose cancer has genetic changes called BRAF V600 mutations. Dabrafenib may stop the growth of cancer by blocking BRAF proteins which may be needed for cell growth. Trametinib may stop the growth of cancer cells by blocking MEK proteins which, in addition to BRAF proteins, may also be needed for cell growth. Researchers hope to learn if giving trametinib with dabrafenib will shrink this type of cancer or stop its growth.

NCT04439292
Conditions
  1. Advanced Lymphoma
  2. Advanced Malignant Solid Neoplasm
  3. Hematopoietic and Lymphoid Cell Neoplasm
  4. Refractory Lymphoma
  5. Refractory Malignant Solid Neoplasm
  6. Refractory Plasma Cell Myeloma
Interventions
  1. Drug: Dabrafenib Mesylate
  2. Drug: Trametinib Dimethyl Sulfoxide
MeSH:Lymphoma Neoplasms Multiple Myel Multiple Myeloma Neoplasms, Plasma Cell
HPO:Lymphoma Multiple myeloma Neoplasm

PFS will be estimated using the Kaplan-Meier method.. Inclusion Criteria: - Patients must have met applicable eligibility criteria in the Master MATCH Protocol prior to registration to treatment subprotocol - Patients must have a BRAF V600E or, V600K, V600R or V600D mutation, or another aberration, as identified via the MATCH Master Protocol - Prothrombin time (PT)/International normalized ratio (INR) and partial thromboplastin time (PTT) =< 1.3 x institutional ULN; subjects receiving anticoagulation treatment may be allowed to participate with INR established within the therapeutic range prior to registration to treatment - Patients must have an ECHO or a nuclear study (multigated aquisition scan [MUGA] or First Pass) within 4 weeks prior to registration to treatment and must not have a left ventricular ejection fraction (LVEF) < the institutional lower limit of normal (LLN). --- V600E --- --- V600K --- --- V600R --- --- V600D ---

However, if the results of previous RAS testing are known, they must be used in assessing eligibility Inclusion Criteria: - Patients must have met applicable eligibility criteria in the Master MATCH Protocol prior to registration to treatment subprotocol - Patients must have a BRAF V600E or, V600K, V600R or V600D mutation, or another aberration, as identified via the MATCH Master Protocol - Prothrombin time (PT)/International normalized ratio (INR) and partial thromboplastin time (PTT) =< 1.3 x institutional ULN; subjects receiving anticoagulation treatment may be allowed to participate with INR established within the therapeutic range prior to registration to treatment - Patients must have an ECHO or a nuclear study (multigated aquisition scan [MUGA] or First Pass) within 4 weeks prior to registration to treatment and must not have a left ventricular ejection fraction (LVEF) < the institutional lower limit of normal (LLN). --- V600E --- --- V600K --- --- V600R --- --- V600D ---

Primary Outcomes

Description: ORR is defined as the percentage of patients whose tumors have a complete or partial response to treatment among eligible and treated patients. Objective response rate is defined consistent with Response Evaluation Criteria in Solid Tumors version 1.1, the Cheson (2014) criteria for lymphoma patients, and the Response Assessment in Neuro-Oncology criteria for glioblastoma patients. For each treatment arm, 90% two-sided binomial exact confidence interval will be calculated for ORR.

Measure: Objective response rate (ORR)

Time: Tumor assessments occurred at baseline, then every 2 cycles for the first 26 cycles and every 3 cycles thereafter until disease progression, up to 3 years post registration

Secondary Outcomes

Description: OS is defined as time from treatment start date to date of death from any cause. Patients alive at the time of analysis are censored at last contact date. OS will be evaluated specifically for each drug (or step) using the Kaplan-Meier method.

Measure: Overall survival (OS)

Time: Assessed every 3 months for =< 2 years and every 6 months for year 3

Description: PFS is defined as time from treatment start date to date of progression or death from any cause, whichever occurs first. PFS will be estimated using the Kaplan-Meier method.

Measure: Progression free survival (PFS)

Time: Assessed at baseline, then every 2 cycles for the first 26 cycles and every 3 cycles thereafter until disease progression, up to 3 years post registration

9 Phase II Study of PDR001 in Combination With MAPK Pathway Inhibitors in Patients With Radioiodine-Refractory Thyroid Cancer

The purpose of this study is to find out whether a drug called PDR001, combined with either trametinib or dabrafenib, is a safe and effective treatment for thyroid cancer.

NCT04544111
Conditions
  1. Thyroid Cancer
  2. Thyroid Cancer, Follicular
  3. Papillary Thyroid Cancer
  4. Follicular Thyroid Cancer
  5. Hurthle Cell Tumor
  6. Poorly Differentiated Thyroid Gland Carcinoma
  7. Hurthle Cell Thyroid Neoplasia
Interventions
  1. Drug: Trametinib
  2. Drug: Dabrafenib
  3. Drug: PDR001
MeSH:Thyroid Neoplasms Thyroid Cancer, Papillary Adenocarcinoma, Follicular Adenoma, Oxyphilic Thyroid Diseases
HPO:Abnormality of the thyroid gland Follicular thyroid carcinoma Neoplasm of the thyroid gland Thyroid adenoma Thyroid carcinoma Thyroid follicular adenoma

V600E, V600K, V600D). --- V600E --- --- V600K --- --- V600D ---

Primary Outcomes

Description: The primary endpoint is to determine the overall response rate (ORR=CR+PR) as documented by RECIST v1.1 criteria within each cohort.

Measure: Overall response rate

Time: 1 year


HPO Nodes


HP:0002664: Neoplasm
Genes 1537
H19 RPS19 WT1 GPR101 CHEK2 MYD88 VEGFC PGM3 CTNNB1 PDGFRA IRF1 RHBDF2 PICALM FANCC GDNF RET PRKAR1A NELFA BCL10 KRT10 BLK TINF2 SMARCD2 NSD2 BRCA1 KRAS TRIP13 KCNH1 PERP CDH23 IKBKG MCC JAK2 MET GTF2E2 FOXC2 NF1 RAD51 TP53 ERCC4 WNT10A ASXL1 CTLA4 FLT4 DVL3 BRCA1 MLH3 NSD1 ERCC2 TSC2 FANCL RPS14 CDC73 TNFRSF4 STAG3 MSTO1 AIP EVC RET PLCD1 SDHB NEK1 POLH ASXL1 BRAF IL7 MAP2K1 ARSA BRAF COL4A5 CYLD KRT14 MLLT10 RASGRP1 H19 XIAP NTHL1 FGFR2 IGH DNAJC21 LETM1 MCM4 MYF6 CD70 FAM149B1 FGFR3 TERF2IP TNFRSF13C GLI3 DDX41 RPL26 PRLR SBDS LIG4 MGMT RERE KLLN FANCM WT1 PHB AXIN2 KIT PTEN TGFBR2 GJA1 PDGFRL STAT6 TYR CPLANE1 IFNG SIX6 JAG1 PALB2 SSX1 FANCG KIT MYO1H ELANE RPS19 H19-ICR KRT6B IDH2 PLCB4 FGFR1 BAP1 MINPP1 MST1 SMARCB1 PDGFRB RB1 FAT4 NF1 HFE SDHD WT1 TET2 BMPR1A RAF1 POLR1D CBFB SKIV2L IRF1 COL18A1 HMBS RET MMEL1 IGF2R JAK2 SEC23A BUB1B XPC ING1 AXIN2 KIT PALB2 MAGT1 STAC3 ALK SLC25A13 TMEM231 SHOX TDGF1 REST SMO SMARCA4 DNM2 TSR2 LIN28B GNAS WT1 CDKN1A DNAJC21 DKC1 BAP1 SRGAP1 ALX1 PTPN11 CBL APC SCN11A MAP3K1 RPL10 KLF6 PAX7 APC C1S NRTN BUB3 KRT5 LIG4 CARD14 GNAS MLH1 CDKN2A GNA11 TMEM127 ESR1 IL2RG KRT1 MET NF2 SDHAF2 SDHD WT1 MAP3K8 STAT1 PHOX2B PTPRJ PTCH2 CHD7 TERT LMNA ERCC6 EDNRB XPA PDGFRA OFD1 VHL SAMD9L SF3B1 FERMT1 BRCA1 GDF2 CASP8 TP53 LAMC2 GFI1B FANCD2 PYGL CR2 AR REST APPL1 APC CYP2A6 SEMA3C WT1 CDKN2A CTSA LRRC8A PHOX2B SMARCB1 NAGS FLI1 SOX2 RAD21 TMEM127 APC FGF3 BAP1 BUB1 RAD51 DKC1 RAD54B VHL EPCAM ASXL1 SRC HRAS BMP2 SLC25A11 PTH1R KRAS MYD88 NPM1 PTEN SH3GL1 PHOX2B TP53 SMAD4 XPA GATA4 MLH1 PMS2 STK11 FANCC DHCR7 PTCH1 CDC73 CYLD MEN1 CLCNKB CHEK2 RNF139 HABP2 POLE H19-ICR MMP1 RPL27 CC2D2A PIK3CA GPC3 ABL1 PALLD WASHC5 INTU ERCC5 DYNC2LI1 SLC22A18 TP53 CDH1 SHH MPL AKT1 NFKB2 NRAS PIGL CASP8 MYC KCNE3 DLST TAF15 TNFRSF13B GDNF EYA1 APC2 TNFRSF1B TCTN3 PPOX PNP PKHD1 BLM ODC1 IL12A TERT STK11 KRT17 IDH1 CIB1 RPL18 DVL1 ARHGAP26 PHOX2B CASP8 RPGRIP1L KRT6A SDHB FGFR2 VAMP7 JAK2 SRY DNMT3A EPAS1 KCNQ1OT1 MSH6 KRAS SDHB WNT5A DNMT3A RUNX1 TRIM28 DHCR24 USB1 VANGL2 GCM2 LIG4 KRAS SDHB ENG SEMA3D TRNS2 MINPP1 CASP10 NTHL1 LMOD1 SUFU FOXH1 CD81 ALX4 F13B BMPR1B RB1 CACNA1S CHIC2 VHL HRAS KIF11 KCNJ11 WRN SLC37A4 GNAQ LZTR1 CCND1 CPLX1 NR4A3 RYR1 NBEAL2 GATA2 TP63 APC KRAS HNF1B SUFU GNB1 MSX2 GPC3 CEL TCTN3 OCA2 MDM4 RB1 TMC6 ASCL1 AR BRIP1 CHEK2 AAGAB TSC1 TXNRD2 POLD1 CARMIL2 APC PIK3CA AKT1 POLE FAN1 RAD21 G6PC BRD4 PTCH2 MSH2 DHH EWSR1 SPRTN SDHC PTCH1 ALX3 CD79A TMEM67 INPP5E CCBE1 KRT6B BRCA2 ITK GINS1 HLA-DRB1 SNAI2 NBN PHOX2B BRAF CDH1 FANCE TYR GPC4 NF1 CD19 MVD AIP AR NBN TMEM107 BRIP1 ATRX BCHE MITF WRN BCR BCR NF2 SERPINA1 SDHB RABL3 PARN ANTXR2 TERT DPM1 IFIH1 GDF5 ZAP70 MEN1 TP53 GNAS BRCA2 TMC8 NODAL LETM1 VANGL1 TBXT BRCA1 FIBP FLT4 IL1B CCL2 FGFR3 SUFU MTAP ELANE CD19 HNF4A SAMD9 BUB1B KLHDC8B SLC26A2 FGFR3 FOXP1 PUF60 RUNX1 PTCH2 TRNK FLT4 TYROBP MPL KRAS RAD54L PIK3CA FAH CHEK2 CPLANE1 FAM20C CXCR4 DDR2 POU6F2 TMC6 SEC23B RET TRNP TFE3 TP53 NAB2 ANTXR1 MYSM1 SDHAF2 BTK TNFRSF10B DCLRE1C L2HGDH CDKN2A CYP11B2 BRCA2 SDHD TET2 TMEM216 BRAF PTCH2 TCF3 RPL11 NNT FLT3 BAX HAX1 IGF2 AKT1 FGFR3 MLH3 PLA2G2A TCF4 MLH3 NOTCH1 ERCC4 RRAS2 GPC4 DICER1 LZTS1 DOCK8 CASP10 GREM1 HPGD COL1A1 DCLRE1C IDH1 XRCC3 SUFU DNAJC21 PDGFRB TP53 NLRP1 WWOX TSC1 CTSC USP9X PDCD10 MEN1 ASCL1 RNF43 TNFRSF13C ESCO2 ZFPM2 AP2S1 PRCC HMBS ADA2 GANAB WT1 RNF43 HRAS KRAS SETD2 ATP6V1B2 FLT3 TJP2 BMPR1A PDGFB KIAA0753 PTEN STK4 NFKB1 BAP1 PMS1 MSR1 SLC26A2 RECQL4 MSH2 JAK2 ATRX FH RECQL4 FCN3 CD28 ASPSCR1 ADAR WHCR NOTCH3 GATA2 SMARCE1 CDKN2A RET ESCO2 EXT1 ERCC5 TET2 MBTPS2 NF1 OFD1 AGGF1 MVK KIT MUTYH HRAS KRIT1 FGFR1 TRIM28 CHEK2 CD79B GNAS BRCA2 KDSR BAX HACE1 MAP2K2 EDN3 ERCC2 CTNNB1 IL6 IGH PIK3CA MSH3 FZD2 SMPD1 SNAI2 PHOX2B SLC26A2 OFD1 PAX4 RB1 TRIP13 EWSR1 SCN9A PIK3R1 GBA EP300 PIK3CA HMMR KIT PDE6D ZSWIM6 SH3KBP1 SRP54 FUZ USP8 WT1 TERT MAFA FOXO1 GJB3 RAD51D POT1 SDHC PRKAR1A CREB1 SH2D1A WIPF1 WWOX PIK3CA NF2 HNF4A FAS RNASEH2A CD27 ATRX SPRED1 RPS14 FDPS RNR1 PALB2 NF1 MN1 TET2 GPC4 KDR SOX9 RAD51 MAX MYLK EP300 SHOX FOXE1 TCOF1 ESCO2 MYH11 HSPA9 MAD2L2 KRT9 CYP2D6 RFWD3 FANCE KRAS CCND1 LMO1 PTCH1 PORCN EDN3 PDGFRA DICER1 FANCA TERC CTBP1 SDHD ANTXR1 CXCR4 RAD50 BRCA2 MC1R MPL SLC22A18 MMP1 KRT16 F13A1 TSC2 ENG SETBP1 WT1 TET2 SDHC SMAD4 ZFHX3 GFI1 RNF113A STK11 KARS1 FOXE1 CDKN2B WT1 ERBB3 SMARCAD1 PDGFRL DMPK GTF2H5 NF2 CEBPA RPS28 PMS1 AKT1 PRDM16 NBN GCK SPINK1 ERBB2 JAK2 KIT DKC1 EXT1 JAK2 COL7A1 AXIN1 SLC22A18 NRAS ECM1 GNPTAB ABCA5 CDH1 NRAS ERCC6 VANGL1 RAD51C MYCN HBB TP53 SRY FANCI AKT1 MITF LEMD3 TARS1 TET2 NSD2 DAXX DYNC2LI1 OGG1 EXT1 TNFSF15 TERT ERCC6 DMRT3 SLC25A11 CTNNB1 VHL KLLN MLH3 EIF2AK4 GJB6 BARD1 OCRL GPR35 MYC DLST KRAS MSH3 RMRP PRKCD KLF6 NEUROD1 FANCG SLC17A9 BMPER FLCN SDHC SF3B1 STS GNA14 TERC MNX1 CAT TCF4 TUBB TRNQ BRCA2 IL12RB1 PDX1 CDKN2A SLC26A4 SDHC PPM1D NRAS PRKAR1A NRAS TAL1 KIF1B DNMT3A PDGFB MRAP ERCC3 CDC73 PRF1 RFWD3 PMVK RPL15 FGFR1 TP53 BICC1 HNF1A GATA1 RTEL1 RPS15A ERCC4 WRAP53 NR0B1 BCR FGFR2 SEC23A KRT17 NR5A1 VHL BLM BRAF ICOS POLD1 RPS27 FASLG CYSLTR2 PTEN PRKN THPO KIF7 NRAS TAL2 BRAF WDPCP DCC MSH6 NOP10 WNT10A PSAP ERCC2 CALR ACD SLX4 ACAN HABP2 GJB4 TET2 PHF21A ERCC3 MDH2 APC PALB2 RPL10 KRT17 PGM3 IL7R ARL6IP6 APC TCIRG1 NF1 SMAD4 PTPN3 PIK3CA ABCA5 FGFR2 TGFBR2 BRCA2 HNF1A RNASEH2C PAX6 IGH TTC37 DICER1 SRY GPC6 TOP2A KIT OFD1 PALB2 NRAS MC1R SDHD TFAP2A FGFR3 TNFRSF1B REST PTEN MST1R SCN4A BRCA2 CDKN2A FGFR2 ZIC2 EFL1 ECE1 NUP214 DDB2 GPC3 KCNQ1 PTEN HNF1B FN1 ASCC1 SPIB SRP72 PTEN FANCB KCNJ10 AKT1 KRAS KEAP1 INS DISP1 PTEN SASH1 CDKN1C ACTB TNFRSF13B MYH8 EDN1 IVNS1ABP NSUN2 TSC1 RAD51C MSH3 ATP7B RET PTPN12 STIM1 DHCR7 KRAS SFTPC BMPR1A XPC TMC8 KCNJ10 KDM6B STK11 KRAS GNAQ KRAS HFE HOXD13 B3GALT6 RPL5 KAT6B GATA2 MUC5B PIK3CA USP8 GDNF SMAD4 MVK RHBDF2 SSX2 CEP57 RAD51C NEK9 JAK2 PDGFB NRAS KRT1 PIK3CA MFN2 DOCK8 PTEN IL7 SDHC ATM AKT1 BRCA1 RELA GCDH PIK3CA IDH2 HRAS CTLA4 GPR143 ERCC2 GATA2 PTPN11 IGF2 SMAD4 NDUFAF6 CDH23 RPS7 RAD54B TP53 MUTYH GLI3 PTPN11 BRIP1 CDKN1B SF3B1 PTCH1 CIB1 ERCC3 PTPN11 TRPV3 GDNF IGLL1 PRKCD CTNNB1 PIK3CA PTPN11 SLCO2A1 FAH BRCA1 ETV6 BRCA2 EPCAM TP53 EXT1 BCL10 TRPS1 BMPR1A ATM MPL KRT17 MAX SLC12A3 ADA TERT UBE2T TSC2 TCTN3 MSH2 BDNF BTK SKI RPS20 NRAS RUNX1 DCC MSH2 RPS24 WT1 TRNF TFAP2A RPL35 RPS17 SDHA RARA CDC73 SBDS POLH BRAF LAMB3 RNF6 PIEZO2 KCNQ1OT1 CCM2 PHKA2 POU2AF1 TP53 TREM2 ABCC8 EXT2 ALK PHKG2 NUTM1 SLC26A4 PTCH1 MUTYH PALLD NBN FANCA SQSTM1 ELMO2 ACP5 TWIST1 TRIM37 RPL31 HFE RET DLC1 SDHB EP300 TREX1 HSPG2 ATP7A MSH6 C2CD3 CHRNG SRP54 TINF2 BUB1 PSENEN SMAD4 NF1 ERCC3 ARID1B RMRP WAS GATA2 MAPK1 BIN1 COL7A1 EDN3 PIK3CA IGF2 H19-ICR TUBB FH MLH1 TNFSF12 PIK3R1 RASA1 F5 SH2B3 CTNNB1 FOXI1 SUFU TLR2 SRSF2 CDKN1B GJC2 OPCML LEMD3 FIBP TRNS1 HNF1A VHL PTEN PRKAR1A MSH2 CYLD CTHRC1 COL7A1 DDB2 SDHC GJB2 LIG4 MDM2 LAMA3 CHEK2 MTOR CDON SMARCE1 TAF1 GNAQ TP53 RAD54L WWOX BMPR1A CCND1 GFI1 BCL10 PTEN CTNNB1 DHX37 SLX4 FGF8 XRCC4 TRIP13 CDC73 BIRC3 NOTCH3 DIS3L2 PKD2 KIF1B GNA11 ARMC5 CREBBP DIS3L2 HRAS LMX1B BAP1 BRCA2 POT1 ABCB11 AURKA RASA1 SMARCB1 ALX4 GPC3 MGAT2 PAX3 IGHM LMNA TCF4 GATA1 TRNK IDH1 LRP5 CALR FH RET SEC23B APC TET2 SETBP1 WT1 PMS2 POLR1C SIX3 EPHB2 RPL35A RET TINF2 CD28 CYP26C1 MNX1 ALX3 KIT CPOX GJB2 DLL1 MSTO1 RSPO1 TEK EXT2 ABCC6 COL2A1 GNAS FH FASLG BAP1 COL14A1 YY1 RAG2 RB1CC1 MAP2K1 RHOH STAR CREBBP RECQL4 EVC2 HBB ERBB2 ABL1 NDP SUFU NF2 MSH6 ATP7A TSC1 FAS SLC6A17 MS4A1 NQO2 FLCN EXTL3 SOS1 RNASEL NPM1 KIT GNAI3 TRNH RAG1 HRAS BUB1B IGF2 PLAG1 FANCD2 BCL2 NEK1 KIT ATP7A PIK3CA SMARCB1 PCGF2 LIG4 BCL6 NUP214 FLNA IRF5 ACVR1 GAS1 DYNC2H1 RSPRY1 TRAF7 RNASEH2B REST RPS29 TGIF1 TERT PIGA TP53 CDK4 GPR101 ACVRL1 SAMHD1 MSL3 MAPRE2 SLC45A2 CTNNB1 ADA KLF11 NKX2-1 GLI2 PKD1 MAP3K1 SRP54 TNFSF12 ND5 CRKL RASGRP1 BCL10 RPS26 GLI3 TRNL1 AR SDHA RB1 MLH1 MC2R TGFBR1 KIT CYP11B1 AXIN2 EGFR PIK3CA RECQL4 EXOC6B SMO SFTPA2 NRAS CDKN1B TP53 PIK3CA MSH6 ACTG2 POT1 SDHB RNF6 CALR KCNN3 C11ORF95 TSC2 CD96 SOS1 COL2A1 SMAD7 GLI1 FANCF MPL CDH1 BRCA2 BRAF ATR SDHA FLCN DICER1 IL1RN ICOS AIP RSPO1 DICER1 GCM2 XRCC2 DNASE1L3 PPP2R1B TGFBR2 MTM1 CDKN2C SIX1 MEN1 POU6F2 SRD5A3 STAT3 ERCC3 TG ASXL1 CDKN2B CYLD NHP2 CCDC22 TBC1D24 BLNK DIS3L2 SH2B3 MPLKIP AHCY PCNA EXT2 EXT2 MEN1 PARN WRAP53 TP53 HBB GABRD NUMA1 APC ZSWIM6 BRCA1 GJB2 KCNAB2 AIP USF3 RUNX1 H19 HDAC4 SDHD UROD PDGFRB CR2 HRAS CDH1 ERBB2 TNPO3 LPP SDHD IL2RG ATM BARD1 TREX1 POLE C2CD3 ERCC4 SLC25A13 PNP KRAS SRSF2 SDHB FGFR3 CASR CASP10 TET2 CTC1 ENPP1 SOX6 PIK3CA BMPR1A ERCC2 TERC CBL ADAMTS3 PIGL BCR SAMD9L NOD2 CBL TGFBR2 MALT1 SEMA4A ANTXR2 SLC37A4 TBX2 DHH STS SDHB TERT KRT16 DZIP1L RTEL1 SDHD CCND1 AKT1 FOXI1 CDK4 NSD1 MLH1 FLCN DLEC1 FGFRL1 MTMR14 GCGR TBX18 CREBBP MXI1 APC BCL10 COL11A2 TERT MC1R SCN10A RPS10 SMO BRCA2 KIT ATM PRKN MRE11 KIF1B KCNH1 VHL GPR101 GNAS PMS2 ACD WDPCP MAD1L1
HP:0000820: Abnormality of the thyroid gland
Genes 573
ZIC2 GLIS3 PTEN FOXH1 TRNL1 NODAL HESX1 PRKAR1A ALX4 LIMK1 IRS4 CTNNB1 HBB SIX3 TSHR LIG4 GP1BB MDM2 MLXIPL CDON SALL1 PAX8 PRKAR1A SEC24C TF POMC TG PRKAR1A BMP4 MMP14 TNFSF15 APOE CACNA1C ZBTB20 WFS1 THRA NKX2-5 TSHR GPC1 FGF8 TRIP13 DISP1 GAS1 IYD XRCC4 CDC73 CACNA1S FOXH1 BIRC3 ELN KMT2D MDM4 SCN4A GPR35 JMJD1C UFD1 CHEK2 TSHR MSH3 BAP1 COX2 TSC1 DLL1 TXNRD2 SIX3 EIF2AK3 NKX2-5 GTF2I MLH3 NSD1 FAN1 MCM8 SLC26A4 MSH2 TG FOXH1 TCF4 MSTO1 SDHC CDON IL12RB1 AIP TBX1 LHX3 SLC26A4 RCBTB1 LIFR GAS1 ACP5 TRNH MRAP SEMA3E SLC5A5 RASGRP1 CDC73 RET SEC23B APC CDH23 APC SPOP POLR1C IGH SIX3 NODAL GATA1 RET LHX4 HPD SHH DISP1 POU1F1 NKX2-1 GLI3 GLI2 ALMS1 FANCI ITCH RERE FMR1 DISP1 KLLN FASLG TWNK DLL1 PTEN SAA1 FOXP3 FGF8 MSTO1 TDGF1 TGFBR2 WRN UBR1 ABCC6 POLG SVBP LHX3 TRNS2 GLI2 FGF8 TRNS1 POU1F1 YY1 RAG2 POU3F4 CASR IFIH1 DUOXA2 IFNG FGFR1 PLAGL1 STAR JAG1 GNAS ZFP57 GNE OPA1 HABP2 DMXL2 NODAL GABRA3 CTLA4 PHF21A HBB USP9X ANAPC1 GNAS GATA6 ND4 PAX8 ND5 SUFU FAS TBCK IDH2 SLC6A17 CDON IL7R STAG2 ARL6IP6 APC BAP1 FLCN SIX3 COX1 MINPP1 RAI1 TRHR MST1 SMARCB1 PIK3CA WDR11 DDOST CHD7 CTNS RAG1 RNASEH2C PLAA ALMS1 ZIC2 FOXE1 FOXP1 PROP1 TTC37 DICER1 KRAS FGF8 POLR1D CCBE1 SHH POU1F1 PIK3CA SKIV2L IGSF1 TRNW STAG2 LEPR MMEL1 LIG4 NODAL POLR3A IRF5 BUB1B SLC26A4 PTCH1 SEC23B ADAMTSL1 ZIC2 PTEN HYMAI TRHR ZIC2 GAS1 GAS1 ECE1 SLC5A5 TRAF7 ROBO1 PTEN RNASEH2B TRNF DCLRE1C TDGF1 BTNL2 DUOXA2 FOXP3 HNF1B ABCC8 DYRK1A SPIB BCOR TGIF1 FLCN CDON DNM1L MARS1 KCNJ10 KCNJ18 NKX2-1 AKT1 KEAP1 TSHR NNT CDKN1A KATNIP KISS1R SAMHD1 DISP1 PTCH1 SASH1 SRGAP1 GLI2 ADA LRP4 TSHB EXOSC2 NKX2-1 GLI2 RET SLC25A4 C1S C1QBP APC DICER1 NRTN CLPB GLI3 GREM1 KCNJ10 BUB3 SMC1A GNAS DCLRE1C IDH1 MLH1 MC2R SUFU NPHS1 SOX3 FOXA2 USP9X SMO NRAS CDKN1B MEN1 KAT6B TONSL STAT1 JAK1 WDR4 PROP1 STAT5B PPP1R15B CHD7 SETD2 LMNA RREB1 MMP2 PROP1 CEP57 MEN1 BMPR1A PDGFB ARVCF GCH1 ATRX PMS1 EDNRB CLIP2 TBX1 LRBA NIN SIM1 PTRH2 KCNJ18 TRMT10A BAZ1B FUCA1 TP53 BRAF ADAR LHX4 RAI1 SOX3 TRNQ RRM2B HSD17B3 AFF4 TRH SMARCE1 APC RFC2 CDKN2A RET SIX3 TDGF1 THRB SEMA3C TSHR PDE4D CDKN2C TANGO2 SIX1 HESX1 IL18BP PTRH2 NSDHL FGFR1 PLCG2 TG CDON LEP GDNF FOXD3 KDM6A PRKCD MAGEL2 TBC1D24 INSR EDN3 TRNL2 RAI1 ZIC2 DCAF17 HESX1 GLI2 EPCAM MSH3 FOXE1 COX3 HRAS FOXH1 EXT2 MEN1 BCL10 STEAP3 ND1 GPR161 PIK3C2A PTEN ZFAT BMPR1A FGF8 HBB DMXL2 GABRD DNAJC19 POLG2 MTTP TRAPPC9 APC SLC12A3 KCNAB2 TGIF1 AIRE TPO USF3 PLVAP WFS1 PTCH1 TNPO3 PTCH1 GRM7 CDH23 TDGF1 LEPR SDHD IL2RA CLCNKB IL2RG HABP2 STAT3 SHH TERT TTC7A TWNK PIK3CA GLI2 SKI RPS20 GAS1 NF2 PROP1 HNF4A LHX4 FUT8 FAS RNASEH2A COMT TBX1 TGIF1 CDC73 RBM28 ENPP1 SUGCT GTF2IRD1 SHH PAX8 CDON AKT1 NNT PCSK1 IYD DEAF1 PTCH1 POU2AF1 ADAT3 FOXH1 TRNS1 THRB FOXE1 PROKR2 FLII MALT1 TCOF1 TSHR TGIF1 SEMA4A SALL1 TBX2 SLC26A4 EYA1 APC2 XRCC4 CTNS PIEZO1 PMM2 STUB1 NLRP1 LHX4 FDX2 ACP5 IL12A TDGF1 KCNJ11 TRNN SRD5A3 TRNW DLL1 TRNL1 SHH TPO AKT1 SGPL1 DICER1 TGIF1 FOXI1 TREX1 ITCH MSH6 SLC16A2 DUOX2 FOXE1 FOXP1 ND6 FGFR1 HSD17B3 TMEM67 BUB1 INSR POLG THRB ALG8 FMR1 ELN TSC2 SETBP1 RMRP SRY PAX8 DUOX2 TANGO2 NKX2-1 NKX2-5 SDHB NODAL TSHB PIK3CA TSHR TBL2 B3GLCT DLL1 ARNT2 CACNA1S TSHR DUOX2 KAT6B FOXE1 CDKN2B HIRA IQSEC2 DMPK LIG4 OTX2 GNAS PMS2 FOXI1 DLL1 CDKN1B PRDM16 CEP57 DNAH1 PDE4D DACT1 SEMA3D HLA-DRB1 TBL1X PPP1R15B MINPP1 STAT1 CASP10 DISP1
Protein Mutations 4
F11N K601E V600E V600K
SNP 0