SNPMiner Trials by Shray Alag

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(2) S492R (2) G308A (2) V191T (2) G71R (2) T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) T128N (2) L536R (2) L536Q (2) L536P (2) A143T (2) T97A (2) G3556C (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) L180M (2) W153Q (2) G193E (2) V173L (2) F876L (2) R479H (2) L82M (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) F166L (2) A200V (2) Y121F (2) G145R (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) V207I (2) K238N (2) G4655A (2) S112A (2) I169T (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) Y454S (1) A133S (1) M9T (1) P596L (1) E318D (1) C1156Y (1) N171K (1) A7445C (1) V82F (1) G47A (1) R447H (1) G47E (1) V82L (1) R776C (1) A92T (1) E27Q (1) F1052V (1) P27A (1) A289T (1) L523S (1) H54Y (1) T1095C (1) S428F (1) R400C (1) D313Y (1) Q12M (1) R139C (1) A393T (1) W719R (1) T862I (1) T66K (1) T66I (1) G49A (1) R48G (1) H58C (1) D203E (1) I104F (1) K656E (1) T40S (1) D312N (1) L747P (1) G276T (1) L747S (1) R200W (1) I1171N (1) Q14D (1) S1400K (1) R115G (1) F17L (1) A71T (1) S339F (1) A71L (1) I431V (1) F317V (1) F317S (1) G20201A (1) F317C (1) G2545R (1) C377T (1) P243R (1) S9346A (1) R25L (1) L528M (1) Q222R (1) I22M (1) I107M (1) C1858T (1) L859R (1) G2032R (1) A859S (1) G389D (1) V148I (1) K65E (1) V148G (1) C242T (1) G389R (1) H369P (1) A98S (1) G2500A (1) I349V (1) I107V (1) V561D (1) C481R (1) L833V (1) P200T (1) G1051A (1) Y93F (1) Y414C (1) Y1248H (1) K65N (1) L74M (1) P4502C (1) Y1248C (1) Y1248D (1) F227R (1) V89L (1) T164I (1) H1124D (1) C94A (1) G1628A (1) A2215D (1) E200K (1) F227L (1) I305F (1) N682S (1) T1010I (1) I655V (1) R885H (1) G7444A (1) R776G (1) E354Q (1) A21443C (1) M351T (1) R620W (1) A54T (1) D594G (1) F311L (1) T49A (1) F116Y (1) H870R (1) G205S (1) E355G (1) R535H (1) I767M (1) L55M (1) E571K (1) L55R (1) M2540A (1) E92K (1) G238A (1) L838P (1) E6V (1) L814P (1) K509I (1) V21I (1) G699A (1) V167F (1) D949V (1) L33P (1) M66V (1) D61804R (1) R849W (1) V762A (1) D816H (1) V108M (1) V326L (1) V411L (1) L10D (1) L58H (1) E158K (1) N334K (1) A1067T (1) S1800A (1) G894T (1) G202A (1) C282T (1) I191V (1) G435A (1) K1060T (1) A10H (1) R272G (1) V654A (1) V106T (1) C1091T (1) I638F (1) P317R (1) V433M (1) S230R (1) N550H (1) R4E (1) P1058A (1) M244V (1) N550K (1) E709Q (1) G304A (1) T124A (1) S253N (1) M680I (1) G1316A (1) M552V (1) M552I (1) R182H (1) D835V (1) A871E (1) D835Y (1) A677G (1) C1950G (1) H1505R (1) A893S (1) L597Q (1) S2808A (1) N55H (1) K28M (1) D89E (1) A38G (1) L485W (1) M9346A (1) L159F (1) A437G (1) R92Q (1) V29C (1) L38V (1) G135C (1) A677V (1) C34T (1) G93R (1) R270H (1) V321A (1) C10D (1) G308V (1) R122W (1) D614G (1) H2507Q (1) D20W (1) G309A (1) G721A (1) G309E (1) I90P (1) C59R (1) C416R (1) G71A (1) Q61R (1) Q61L (1) H835L (1) R498L (1) V941L (1) Q62E (1) R389G (1) D769N (1) G156A (1) E1784K (1) G98T (1) Q65E (1) T92A (1) S239D (1) C656G (1) R451C (1) G73C (1) G5665T (1) R72P (1) F64L (1) L248R (1) M204I (1) R149S (1) A105G (1) M28L (1) D769Y (1) V769M (1) R75T (1) E193K (1) T890M (1) P250R (1) P58A (1) L532S (1) S147G (1) S1235R (1) K660E (1) T454A (1) R76K (1) L1213V (1) V742I (1) V1238I (1) R74W (1) T102C (1) K3048A (1) T93M (1) D961S (1) G1269A (1) R277W (1) P187S (1) Q20W (1) A561P (1) V740A (1) T783I (1) T674I (1) T783A (1) S8814A (1) V90I (1) C325G (1) Q188R (1) R30H (1) C785T (1) S100A (1) R496L (1) G174S (1) L798F (1) V765A (1) P11A (1) C18S (1) L798H (1) G1049R (1) V765M (1) S366T (1) R230C (1) G1376T (1) H396R (1) H396P (1) S65D (1) T1191I (1) A277G (1) L755A (1) H131R (1) T878A (1) T854A (1) P253R (1) C1494T (1) L755P (1) P120H (1) E525K (1) C102T (1) Y1253D (1) G196A (1) A145T (1) K70N (1) L861G (1) H43R (1) I76V (1) C344T (1) F1174V (1) R677W (1) S9313A (1) I112T (1) G10V (1) R10C (1) F1174L (1) R10A (1) K860I (1) R34P (1) F1174C (1) R108K (1) I112M (1) V151I (1) I332E (1) S1369A (1) R32Q (1) N409S (1) C563T (1) Q24H (1) I113T (1) D761Y (1) N291S (1) Y114C (1) V151A (1) G34A (1) G1069R (1) R896C (1) S567L (1) A827G (1) G12S (1) I54T (1) D565H (1) Y113H (1) P367L (1) R102G (1) R368H (1) M3002A (1) P125A (1) V282M (1) M1040E (1) E545G (1) E545A (1) G398A (1) E545D (1) G12A (1) L409P (1) S1787N (1) S784P (1) L841V (1) R14C (1) V943A (1) S9333A (1) Q148K (1) Q148E (1) M1043I (1) Y220C (1) T416P (1) A3669G (1) R38H (1) T961C (1) V1110L (1) T961G (1) L84F (1) S108N (1) C365Y (1) A719G (1) D237E (1) G37R (1) D104N (1) S653C (1) S786I (1) V834I (1) Y376C 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V1180L (1) V774A (1) T377M (1) V689M (1) V774M (1) D164V (1) L387M (1) R199W (1) N86S (1) M694V (1) N86Y (1) G11053T (1) R175H (1) T17M (1) Y86N (1) A2144G (1) A2059G (1) N345K (1) D50W (1) I180V (1) A864V (1) L24E (1) V118I (1) G212S (1) I843S (1) N1303K (1) R1623Q (1) A1033V (1) L1198F (1) N1325S (1) Q812R (1) V773M (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G1631D (1) G211A (1) D76Y (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) L101I (1) A2143C (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900E (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) R702W (1) T1456G (1) T1565C (1) E1021K (1) K15210D (1) G779C (1) G82S (1) G779F (1) G840A (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) L28P (1) H180Q (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) G60D (1) R352W (1) G623R (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) V736A (1) L432V (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) Y143H (1) G86R (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) P46L (1) N700D (1) A5147S (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) R1070Q (1) C316N (1) T81C (1) T1304M (1) I167V (1) I82A (1) D13H (1) Q54H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) A222V (1) L106V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) C1895T (1) P392L (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation V600D

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 9 clinical trials

Clinical Trials


1 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

2 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

3 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

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 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

6 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

7 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

8 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

9 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)


HPO Nodes


HP:0002664: Neoplasm
Genes 1522
SF3B1 GFI1B IGF2 FIBP RPS7 WT1 COL7A1 TREX1 HSPG2 CASP8 SLC22A18 MC1R TFE3 KRAS PLAG1 OFD1 BRAF NUMA1 KRT16 PSENEN CTPS1 APC SOX9 FANCM OPCML CDKN2A RPS15A CTNNB1 SDHD EDN3 FCN3 NELFA GJC2 MALT1 HPGD GLI1 CD70 SPINK1 LETM1 PMS1 LRP5 HNF1B EXT1 TCF4 ELMO2 MET ANTXR1 KRT16 KRT10 PAX4 SETBP1 TERT WT1 SMARCB1 GJB6 HRAS STK11 BUB1B GNPTAB MYD88 MCC GJB2 BRCA1 TP63 PDGFRL TARS1 NF1 FGFR3 KARS1 BARD1 BRIP1 GATA2 IL1RN BRAF CD81 TNFRSF13B TYROBP AR LIG4 KLF11 ABL1 MVK BMPR1A PIK3CA B3GALT6 SLC37A4 SOS1 TSC1 FGFR3 ATRX FANCG TET2 KIT SRP72 MPL TP53 SMAD4 EVC2 MAPRE2 DLST BRCA1 DICER1 HRAS AKT1 RNR1 TSC1 TNPO3 XRCC4 DNMT3A NEUROD1 THPO MN1 NOD2 SRSF2 PPM1D FLT4 ATP7A IL7 KRAS GDNF WNT10A EPAS1 COL1A1 IL1B MRAP ADAMTS3 PRKCD SUFU PTCH1 ERCC3 KRT14 CXCR4 HOXD13 IGF2 LIG4 PALB2 BLM NRAS ERCC3 FOXP1 SDHD TP53 PKD2 PDX1 TINF2 ADA2 MYF6 RHBDF2 POU6F2 PHKG2 CDKN2A RUNX1 ERCC2 MAP2K2 WT1 USB1 GATA4 FGFR2 ACD CR2 MUTYH ARL6IP6 FAH MSH2 RASA1 NEK1 SOX6 NR0B1 LIG4 CDKN2B NF1 NF1 POLE RPL35 SRY SDHAF2 FANCL CPLX1 FAS PRKAR1A PHB SDHA CALR PIK3R1 FAN1 TET2 TMEM216 RSPO1 SEMA3D MDM4 SDHD HRAS NUP214 GJA1 PIK3CA CCND1 RNF6 MSH2 C11ORF95 MVK MCM4 FLI1 TINF2 KIAA0753 ECM1 ARSA ERCC2 SOX2 SDHC SLC26A2 MPL VANGL1 PUF60 RAD51D POT1 CR2 ESCO2 FOXE1 PMVK SRY GJB4 TRIM37 KIT EXT2 PDGFB KIF1B FANCF IGF2R MLH1 GDNF PIK3CA ASCC1 ASCL1 TCIRG1 APPL1 RPS19 BCL10 IGF2 NRAS FLT3 STAT1 BCL10 RMRP GNAI3 KRAS GPR101 BAP1 NKX2-1 MAX BMPR1A DDB2 SMARCB1 RAD51 FGFR3 ALX4 BTK MSH6 NOTCH3 DICER1 CXCR4 CCBE1 RET WT1 TP53 PALLD RNASEH2B WT1 ATR CCND1 KCNQ1OT1 SMAD4 AHCY STK11 FANCC TRNK BCL6 SMAD4 SKIV2L HMBS TP53 TERT PHOX2B SNAI2 BRAF TCOF1 FANCI NRAS REST SDHC HBB HFE CREBBP MET SEC23A CEP57 CTLA4 TRIM28 SMAD7 GNAS BRCA2 PALB2 FGF8 SBDS RET ALK GJB2 CPLANE1 GPC3 TCTN3 PTEN RB1 INTU CYP26C1 LEMD3 PRLR CDON NLRP1 GPR101 DHH HNF4A MMEL1 DNASE1L3 RASGRP1 ATRX CHEK2 FANCA SPRED1 DNM2 FLT4 CHEK2 RPS19 KLLN HACE1 HNF1A PTPN11 CDKN1B GAS1 BRCA2 KCNQ1OT1 NPM1 FGFR3 MC1R MINPP1 PTPN11 TSC2 ABCA5 BRCA2 PLCB4 SCN11A HNF1A BRAF RB1 CBL ARHGAP26 SUFU PTPRJ C1S APC IRF5 GNAQ GDNF TERT MYSM1 XPC TMC8 COL4A5 ERBB3 SLC26A4 CD96 NSUN2 PDGFRA FERMT1 TYR DNAJC21 MSH2 SH3GL1 TUBB RET BRAF ESR1 PAX3 RHBDF2 RTL1 WRN DYNC2LI1 ELANE EXOC6B RPS26 EWSR1 VHL PIGA GCGR POU6F2 RNF43 POLE BRAF MNX1 SFTPA2 CDH23 ASCL1 APC ACVR1 PIGL BAX RAG2 RSPO1 MSH3 PGM3 FGF3 FANCE MPL TP53 COL7A1 BUB1 TET2 PALB2 ACTB PNP SDHC EDN3 XPA TMC6 NEK1 GNA11 KAT6B KRT1 RUNX1 PAX7 NOTCH1 ENG CTNNB1 ETV6 MPLKIP PARN CDKN2A PTPN3 STAG3 MDM2 TP53 LAMC2 NBEAL2 VAMP7 GNA14 DCLRE1C CBL GCDH FANCC AXIN2 PYGL SOS1 BLK WRAP53 IDH1 KRAS CCM2 APC ASXL1 ATP7B ERCC3 SF3B1 EP300 BRCA2 MGAT2 NRTN CDKN2A DICER1 PMS1 RPS10 TBC1D24 FAH BRCA2 ASXL1 BCR C2CD3 KRAS IDH1 IGLL1 RASA1 BRCA2 CHEK2 PTCH1 RNF113A BRAF MBTPS2 EDNRB IGHM PDGFRB RAF1 MEN1 FASLG TUBB NDUFAF6 FOXI1 TGFBR1 EPCAM CYLD SDHB APC CYP2D6 TAF1 KRT17 BRCA1 BUB1B BAP1 GDF2 BUB1B ERCC2 TP53 KRT5 GATA2 BRCA1 RAD54B MRE11 STAC3 DNMT3A MLH1 BCHE EDN3 CDKN1B AURKA NRAS FLCN IDH2 EDN1 ESCO2 USF3 IGH POT1 ACVRL1 JAK2 NBN NRAS SQSTM1 TMEM127 ZFPM2 SLC12A3 NTHL1 ADA CHIC2 STAT3 SETBP1 FANCB FIBP STAT3 STK11 MLLT10 SFTPC HDAC4 NUP214 GLI2 SLX4 TSC1 ERCC6 TP53 CLCNKB KLF6 OGG1 JAK2 PAX6 RECQL4 RPL31 MYO1H FH RPGRIP1L SLC45A2 RPL10 RPL10 HMBS GDF5 TNFRSF10B PIK3CA GABRD TP53 BRCA2 SEMA4A BCR PALB2 ASXL1 KRT6B CCDC22 SAMD9 DMPK DCC ERCC5 RPL5 CTNNB1 RPS27 TRNS2 PTCH1 PTEN TFAP2A RPS24 RPL35A RET AXIN1 HNF1B ARMC5 UBE2T SRP54 SSX2 DKC1 ERCC3 JAK2 GNA11 LAMB3 GJB2 NFKB1 KCNQ1 GLI3 PIK3CA KANSL1 CASP8 MYC RECQL4 ACAN CACNA1S BDNF KIF11 MDH2 MSL3 FGFR1 TERF2IP HFE NFKB2 TOP2A GFI1 SRD5A3 PHKA2 MAX POLE MAP2K1 EYA1 RNF43 ALX3 SETD2 ERCC4 CTLA4 SIX3 LEMD3 OCRL CDH23 DZIP1L MSH3 AR CDC73 PDGFRL TWIST1 POU2AF1 DKC1 CALR LIN28B KRT6A GATA1 MC1R DIS3L2 CD28 CDC73 ADA2 UROD CIB1 TSR2 WNT5A TET2 PHOX2B BMPER KIT DLC1 MSTO1 H19-ICR SLC25A13 ADAR TMEM67 BMPR1A MLH3 POLR1C KRT6B FH EFL1 TERC BUB3 FOXC2 NOTCH3 KIT NSD1 FGFR2 SLC6A17 MAP3K1 TRIP13 MEG3 RRAS2 BMPR1A NF1 DPM1 LIG4 PARN RHOH BRCA2 NF1 TAF15 RFWD3 VHL H19 BCR KRAS VANGL2 KRAS SDHD DVL3 BIN1 ABL1 GPC3 HAX1 FANCA GDNF NHP2 IGF2 VHL CCL2 EXTL3 RUNX1 PRKCD BLNK MSH6 SLC22A18 IL2RG PTH1R SDHB AIP WDPCP APC KCNJ10 ASPSCR1 OCA2 TP53 WT1 SPRTN TET2 TAL1 L2HGDH KIT SDHC ERCC4 GPR143 PRKN SMAD4 SEMA3C TRNS1 BRCA1 SHOX PCNA FANCG CREB1 TRNH VHL MYLK BAP1 SUFU ANTXR1 POLD1 NODAL IGH JAK2 MS4A1 MEN1 TSC2 GATA2 DHCR7 TINF2 F13B RB1 COL7A1 SCN4A BMPR1A DDB2 CDKN2A SDHD CYP11B2 IL7 ARID1B KIT FGFR1 RET CDKN2A LAMA3 CHEK2 TBX2 TBX18 HNF4A GPC4 SHH LMNA BMP2 YY1 AKT1 WT1 BAP1 FZD2 SH2B3 BTK GATA1 RAD54L ATM CTBP1 PTEN SRY RYR1 CTHRC1 MFN2 PTEN RAD21 PTEN MYC SLC26A2 TP53 CTNNB1 RAD51C NAB2 NLRP1 SUFU DLL1 PSAP SDHB REST TGFBR2 TRIP13 IGH ABCC8 IL6 CPLANE1 H19 FANCD2 FGFR2 RET PKD1 DNMT3A REST CHEK2 GNAQ MXI1 BRIP1 DYNC2LI1 GNAS TP53 GLI3 DIS3L2 NRAS PICALM WT1 BAP1 MEN1 TXNRD2 MGMT PTEN MYD88 GNAS POT1 AGGF1 BUB1 PTEN PORCN HFE NUTM1 PHOX2B MSX2 PMS2 SLX4 H19 USP9X RPL27 GNAS SEC23B CBL CD28 PKHD1 AXIN2 TRPV3 KLLN SSX1 TSC1 PPOX KRT17 CARD14 HRAS TCF3 RPL11 CC2D2A GREM1 CHEK2 AP2S1 NRAS TRNL1 ALX1 CREBBP TCTN3 TET2 ESCO2 DOCK8 NRAS STK11 GCM2 TTC37 WT1 SMAD4 DAXX MITF BCL2 DIS3L2 POLR1D TDGF1 KRAS TNFRSF13C KIT PHOX2B SF3B1 RPL15 NF1 TERT TNFRSF1B FANCD2 MLH3 IL7R GPC4 H19-ICR SLC17A9 MEN1 MST1R KIT RAD50 TJP2 DNAJC21 PDCD10 MUTYH IL12RB1 SH2D1A FGFR2 NBN KRAS KIT CASR ENPP1 SDHB HRAS IKBKG PNP EXT2 BRD4 SMARCB1 REST COL11A2 TG KIT LIG4 SUFU NBN RSPRY1 CYSLTR2 SDHD AAGAB BLM RAG1 RNF139 RB1CC1 ACD PTPN11 SLC26A2 TREX1 BMPR1B DDR2 ZAP70 MNX1 MAGT1 AIP GATA2 AR STAR IFIH1 IDH2 BRCA1 USP8 RB1 FGFRL1 SMO USP8 RMRP SLC25A11 MLH3 FUZ DOCK8 SUFU NF2 KDR KRAS RPS14 CASP10 SRP54 ZSWIM6 TBXT PTCH2 EWSR1 TNFRSF13C MTAP NQO2 RPL18 DNAJC21 GCK ERCC6 KDM6B EXT1 SBDS CCND1 SDHAF2 KCNH1 CYLD LMOD1 PDGFRA CAT CHRNG TRNQ ADA NRAS TLR2 SHOX FGFR3 BCL10 TYR KRAS COL2A1 PTCH2 SMO GBA MSTO1 TREM2 JAK2 TMEM231 MSH2 ASXL1 RET DHCR7 NBN PIK3CA NSD2 SDHB EIF2AK4 PALB2 KIF7 PTPN11 PIK3CA HLA-DRB1 STIM1 TMC6 KIF1B TNFSF15 RELA AKT1 NPM1 APC SDHA SDHB STAT6 CDKN1C CDC73 PTCH2 KANSL1 ZSWIM6 FLCN HBB LZTS1 FN1 TRAF7 ACP5 CTNNB1 MLH1 EXT2 RNASEL RNASEH2A IL2RG ATP7A CDK4 CYP11B1 MMP1 SDHB ATRX ACTG2 FOXH1 OFD1 NEK9 STS MUC5B PRKCD PTPN11 PTCH2 LRRC8A RPL26 MSH6 NNT LZTR1 CDC73 PTEN AKT1 AKT1 SASH1 HRAS ANAPC1 PTPN12 KCNJ11 TCF4 GATA2 MLH3 ERCC4 GNB1 DISP1 IDH1 BCR GANAB MSH6 NR5A1 TSC2 GFI1 TNFSF12 TRNP MAPK1 IFNG FLT4 MTM1 WWOX HABP2 RPS28 HRAS SLCO2A1 ND5 SDHB CHD7 BRIP1 SLC37A4 MC2R XRCC3 TNFRSF4 NAGS PHF21A ZIC2 PCGF2 SMARCE1 CTNNB1 SRP54 CDH1 CDK4 RPS20 KCNJ10 RAD21 RNF6 COL14A1 SMO CD19 WRN SRGAP1 CDKN2C AXIN2 GPC6 WWOX HSPA9 FOXI1 CPOX RPS17 APC2 MYH8 SERPINA1 ATM LMX1B ENG POLH TGFBR2 DHX37 VEGFC KIF1B KRT17 DDX41 SPIB CBFB HRAS BCL10 PIGL FGFR1 NSD1 F5 KCNN3 BAX PIEZO2 RECQL4 CREBBP KIT PDGFB PDE6D ABCA5 AKT1 KLHDC8B TNFSF12 EPCAM RARA MLH1 GINS1 EVC PIK3CA FANCE WIPF1 NF2 PDGFRA PRKAR1A CDH1 SDHD PRCC TRNF PTCH1 TNFRSF1B WNT10A WWOX MAD1L1 MTOR WDPCP RNASEH2C NSD2 SAMD9L FH LPP NF1 KRIT1 NTHL1 IL12A HNF1A CDH1 SMARCB1 SMARCE1 CD19 FH FDPS TRPS1 ERCC4 SMPD1 SMARCD2 BRCA1 MPL CRKL SEC23A EXT1 PERP ATM FOXE1 CDKN2B CTSC SIX1 FAM149B1 CDH1 RAD51C ALX3 DLST TRIP13 ING1 PDGFRB FLT3 COL18A1 MST1 TGIF1 TMEM107 SRSF2 TRIM28 BAP1 ANTXR2 CD79A PIK3R1 MAP3K1 NOP10 PIK3CA POLD1 KDSR CCND1 TP53 TMC8 ALK MAP2K1 CD79B SDHC ECE1 PALLD CTSA PRDM16 IVNS1ABP CALR FLNA GPR101 BRCA2 ERCC2 DYNC2H1 TFAP2A COL2A1 DVL1 TERT APC TERT TEK EXT2 TERC ALX4 OFD1 LMO1 PDGFRB RPS14 DCC RTEL1 INS TSC2 FAM20C MYH11 GPC3 SCN9A SMAD4 RASGRP1 HBB TGFBR2 RERE NDP PLA2G2A TCF4 MAD2L2 SKI AIP HMMR SDHC SNAI2 PIK3CA LMNA PGM3 ABCB11 TAL2 WT1 VHL PIK3CA TCTN3 SAMD9L ICOS GLI3 RB1 SLC25A13 SDHC DCLRE1C GCM2 VANGL1 SIX6 WT1 PMS2 KCNH1 BARD1 H19-ICR GNAS TERT CIB1 B3GALT6 GJB3 ERBB2 SDHA KRAS CDC73 TNFRSF13B TET2 FGFR3 WAS SEC23B TGFBR2 TP53 NF2 SMARCA4 NF2 SLC26A4 ANTXR2 WRAP53 FAS SAMHD1 TP53 TET2 ATP7A PTEN SH3KBP1 CARMIL2 MVD PDGFB ABCC6 G6PC1 TRNK KRAS GPC3 PTEN NF2 JAK2 DMRT3 GNAQ RAD51 GTF2H5 TMEM127 TERT RUNX1 FAT4 AR HABP2 NR4A3 EP300 MINPP1 OFD1 RASA1 DLEC1 BIRC3 AIP CD27 PHOX2B BMPR1A KCNE3 PLCD1 RAD51 KRT1 MSH3 MITF EPHB2 DHCR24 RABL3 KRT17 XRCC2 NRAS ITK VHL BICC1 RECQL4 SMARCAD1 MYCN RET CTC1 PTCH1 JAK2 SRC SDHB PHOX2B AKT1 KEAP1 JAG1 VHL LETM1 NLRP1 MEN1 BRCA2 FLCN C2CD3 RFWD3 XPA APC APC SDHD FOXO1 MAFA WHCR GPC4 MLH1 ICOS CDKN1B MTMR14 KIT DICER1 EP300 ZFHX3 MMP1 PRKAR1A KRT9 F13A1 CTNNB1 MPL INPP5E NF1 DKC1 TERT DLK1 SCN10A STS RPS29 PTEN FLCN LRBA ELANE GTF2E2 ATM PIK3CA GPR35 CYLD RAD51C CDKN1A WT1 DICER1 PIK3CA TERC PIK3CA SLC25A11 GNAS CEBPA ATP6V1B2 RET XPC EXT1 BRCA2 SH2B3 ERCC3 BRCA2 RTEL1 WASHC5 ERCC2 AKT1 KCNAB2 CYLD STK4 POLH ERCC5 CDH1 CEL XIAP MSR1 TP53 TET2 DHH PRKAR1A
HP:0000820: Abnormality of the thyroid gland
Genes 601
TGIF1 KMT2D UBR1 SLC16A2 MAGEL2 NODAL ND6 FOXE1 PIEZO1 TBL1X TREX1 NODAL MAGEL2 GTF2IRD1 INSR BRAF DUOXA2 APC SHH FGFR1 TSHR RET GNAS ARVCF CDKN2A TBX2 SHH CTNNB1 YY1 THRB PIK3C2A RREB1 MALT1 TF SOX3 OCA2 GATA1 USP9X TCF4 PTEN NKX2-5 SVBP NDN NKX2-1 GPC1 DLL1 BUB1B FGF8 GAS1 B3GLCT TGFBR2 SIM1 FOXH1 IGH CLIP2 BMP4 ELN TPO FOXD3 TTC7A HIRA DNAH1 GP1BB TP53 GLI3 SLC26A4 FDX2 BAP1 MEN1 COX1 DLL1 SEC24C TXNRD2 SIX3 NKX2-5 ELN PIK3CA TRH GLIS3 PMS2 DUOXA2 FOXH1 FOXP3 USP9X ADAMTSL1 SEC23B KATNIP CDON AKT1 TSC1 IGSF1 TNPO3 MEN1 TRMT10A HRAS XRCC4 HESX1 GREM1 CHEK2 PTRH2 GAS1 PDE4D PROP1 TRNW MRAP PRKCD SUFU TRNL1 CDH23 TTC37 DACT1 LIG4 PLAGL1 POLR1D FOXP1 TDGF1 KRAS CDON LHX4 GNE IGF2 HPD TMEM67 SHH DISP1 IL7R DUOX2 NKX2-1 PPP1R15B ZIC2 ARL6IP6 THRA IL12RB1 DISP1 SRY HSD17B3 FAS SLC25A4 PRKAR1A IL2RA ENPP1 FOXH1 TDGF1 AIP FAN1 EXOSC2 SEMA3D TG LIG4 MDM4 TRNS1 GLI2 POU1F1 FGF8 TRNH LHX4 RAG1 PAX8 DUOX2 PCSK1 SNRPN FMR1 FANCI TREX1 SCN4A FGFR1 PROP1 STAR DCAF17 IFIH1 IYD IDH2 DNM1L FOXE1 CCBE1 PDE4D CACNA1S EXT2 IRS4 ROBO1 GNAS WDR11 ND1 GATA6 KCNJ18 PAX8 ND4 SUFU CASP10 STAT1 SUGCT POLG DISP1 RMRP STAG2 BAP1 SIX3 TRNQ NKX2-1 RAI1 SNRPN ZBTB20 SMARCB1 LHX4 MSH6 HSD17B3 DICER1 NIN RET ADA RNASEH2B ZIC2 XRCC4 BCL10 SLC5A5 SKIV2L MSTO1 STAT1 MSH2 RET FGF8 TCOF1 SHH SDHB HBB MMP2 OCA2 PIK3CA NODAL FOXP3 CEP57 TNFSF15 CEP57 SLC26A4 PTCH1 AKT1 ZIC2 TRNF ALMS1 CDC73 KANSL1 FGF8 DLL1 RET HBB TRHR TRAF7 ACP5 CDON PTEN RNASEH2A TRNS2 CDON NLRP1 POLR3A DUOX2 HNF4A ZFP57 MMEL1 RASGRP1 FOXH1 CDON MARS1 GABRA3 CDKN1C TONSL KLLN TSHR NNT CDKN1B GAS1 CDC73 PTEN PTCH1 STUB1 SASH1 MINPP1 GLI2 C1S ANAPC1 APC TSHB IL18BP DISP1 THRB BCOR POLG2 IFNG APC IRF5 GDNF HABP2 NDN SLC26A4 ANAPC1 FGFR1 CHD7 ACP5 MC2R OCA2 PHF21A ZIC2 FLCN NNT LIFR PLVAP RPS20 ARNT2 KCNJ10 OTX2 TSHR WRN DDOST SMO INSR SRGAP1 CDKN2C WFS1 MMP14 LEP PROKR2 ADAT3 PMM2 FOXI1 RBM28 ITCH APC2 PTRH2 APC KAT6B PLCG2 NDN THRB SPIB RAG2 MSH3 JAK1 NSD1 TRHR SPOP CACNA1C JMJD1C GLI2 BUB1 CDH23 PDGFB TBX1 TSHR ATRX EPCAM EDN3 LEPR TBL2 TBX1 LHX3 FOXE1 FMR1 KAT6B CTNS FOXA2 PPP1R15B FOXP1 RFC2 FUCA1 MDM2 LEPR RNASEH2C PLAA TRNW LHX3 MADD DCLRE1C SGPL1 PROP1 RRM2B LIMK1 HESX1 IL12A TWNK WDR4 SMARCE1 APC SIX3 CACNA1S GLI2 NRTN SAA1 FARSA PMS1 FOXE1 CDKN2B TANGO2 TBC1D24 SIX1 TRAPPC9 PROP1 IDH1 MST1 TGIF1 SEMA3E CDON TBX1 HNRNPK EDNRB ALG8 MEN1 MCM8 FASLG ZFAT FOXI1 IQSEC2 OPA1 HYMAI ECE1 PRDM16 TRNS1 DEAF1 ZIC2 AFF4 MLH1 FOXE1 NPHS1 COX2 PAX8 NRAS FOXH1 STEAP3 ALX4 NKX2-5 TSC2 RAI1 COX3 SOX3 USF3 FGF8 HBB CASR HESX1 LRP4 RERE POLG MTTP SLC12A3 SKI TGIF1 SETBP1 PIK3CA LMNA STAT3 SMC1A WFS1 GLI3 GLI2 TDGF1 SDHC CLCNKB DCLRE1C ALMS1 POU3F4 HMGA2 PTCH1 LHX4 GNAS TERT PIK3CA GLI2 GABRD TSHR ITCH SEMA4A GAS1 GAS1 DMPK SEC23B NF2 PTCH1 POU1F1 DYRK1A PTEN RCBTB1 SLC26A4 FAS SAMHD1 UFD1 C1QBP PTEN TGIF1 TREX1 HNF1B ABCC6 PLAG1 GTF2I MAGEL2 TSHR TWNK TG SRD5A3 KISS1R KANSL1 PTCH1 EIF2AK3 KCNJ11 CLPB HABP2 DNAJC19 TDGF1 FUT8 TG GCH1 MINPP1 GPR161 RAI1 HFE BIRC3 HNRNPK TGIF1 BMPR1A SALL1 NSDHL EYA1 SETD2 TSHB SIX3 MSH3 TSHR POMC POU2AF1 TDGF1 TRNL2 TRNL1 CDC73 ADA2 DLL1 TRNN CTLA4 SNRPN SHH SLC5A5 AKT1 CTNS MSTO1 KEAP1 SIX3 JAG1 DMXL2 TBCK ADAR BMPR1A MLH3 CHD7 POLR1C STAT5B APC ND5 STAG2 CDKN1B TSHR BUB3 DICER1 PRKAR1A SLC6A17 KCNJ18 MAGEL2 TRIP13 MLXIPL HLA-DRB1 AIRE LIG4 PAX8 TPO NKX2-1 SDHD APOE FLCN NODAL GRM7 ABCC8 LRBA IYD POU1F1 GPR35 BAZ1B DLL1 CDKN1A COMT DMXL2 DICER1 TANGO2 GNAS FLII IL2RG KCNJ10 NODAL KCNAB2 CTNS PRKAR1A KDM6A SALL1 SEMA3C BTNL2 DISP1
SNP 0