NMTC1
MCID: THY109
MIFTS: 55

Thyroid Cancer, Nonmedullary, 1 (NMTC1)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Thyroid Cancer, Nonmedullary, 1

MalaCards integrated aliases for Thyroid Cancer, Nonmedullary, 1:

Name: Thyroid Cancer, Nonmedullary, 1 56
Papillary Thyroid Carcinoma 52 29 6 17 71
Familial Nonmedullary Thyroid Cancer, Papillary 56 52 73
Nonmedullary Thyroid Carcinoma, Papillary 56 52 73
Nonmedullary Thyroid Carcinoma 1 29 6
Non-Medullary Thyroid Carcinoma 73 71
Papillary Carcinoma of Thyroid 56 73
Thyroid Carcinoma, Papillary 74 13
Nmtc1 56 73
Pact 56 73
Papillary Carcinoma of Thyroid; Pact; Ptc; Tpc 56
Familial Nonmedullary Thyroid Gland Carcinoma 71
Familial Non-Medullary Thyroid Cancer 73
Cancer, Thyroid, Nonmedullary, Type 1 39
Thyroid Carcinoma, Nonmedullary 1 71
Thyroid Cancer, Non-Medullary, 1 73
Nonmedullary Thyroid Carcinoma 73
Cancer, Thyroid, Nonmedullary 39
Thyroid Papillary Carcinoma 54
Papillary Thyroid Cancer 54
Fnmtc 73
Nmtc 73
Ptc 73
Tpc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thyroid cancer, nonmedullary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 188550
OMIM Phenotypic Series 56 PS188550
MeSH 43 D013964
SNOMED-CT via HPO 68 255029007 263681008 3716002
UMLS 71 C0238463 C1853488 C3501843 more

Summaries for Thyroid Cancer, Nonmedullary, 1

OMIM : 56 Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis, 175100; Carney complex, 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009). PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing. PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis (summary by Bonora et al., 2010). (188550)

MalaCards based summary : Thyroid Cancer, Nonmedullary, 1, also known as papillary thyroid carcinoma, is related to polymyositis and retinitis pigmentosa 11. An important gene associated with Thyroid Cancer, Nonmedullary, 1 is NKX2-1 (NK2 Homeobox 1), and among its related pathways/superpathways is LncRNA-mediated mechanisms of therapeutic resistance. The drugs Paclitaxel and Aztreonam have been mentioned in the context of this disorder. Affiliated tissues include thyroid, lymph node and breast, and related phenotypes are goiter and papillary thyroid carcinoma

NIH Rare Diseases : 52 Papillary thyroid carcinoma is a form of cancer that occurs due to abnormal and uncontrolled cell growth of certain cells (follicular cells) of the thyroid. Many people with papillary thyroid carcinoma have no signs or symptoms of the condition. When present, symptoms may include a small lump at the base of the neck, hoarseness, difficulty swallowing, trouble breathing, and pain in the neck or throat. Although people of all ages may be diagnosed with the condition, women between ages 30 and 50 are most commonly affected. The cause of papillary thyroid carcinoma is currently unknown. Risks for developing thyroid cancer include a history of high-dose external radiation treatments to the neck and radiation exposure during nuclear plant disasters. The best treatment options depend on many factors, but may include surgery, radiation therapy (including radioactive iodine therapy ), chemotherapy and thyroid hormone therapy .

UniProtKB/Swiss-Prot : 73 Thyroid cancer, non-medullary, 1: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.

Wikipedia : 74 Papillary thyroid cancer or papillary thyroid carcinoma is the most common type of thyroid cancer,... more...

Related Diseases for Thyroid Cancer, Nonmedullary, 1

Diseases in the Familial Nonmedullary Thyroid Carcinoma family:

Thyroid Cancer, Nonmedullary, 2 Thyroid Cancer, Nonmedullary, 1
Thyroid Cancer, Nonmedullary, 3 Thyroid Cancer, Nonmedullary, 4
Thyroid Cancer, Nonmedullary, 5

Diseases related to Thyroid Cancer, Nonmedullary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 699)
# Related Disease Score Top Affiliating Genes
1 polymyositis 30.7 MIR222 MIR221
2 retinitis pigmentosa 11 30.6 MIR146A HOTAIR CCND2-AS1
3 thyroid gland disease 30.4 NKX2-1 MIR222 MIR221
4 diffuse large b-cell lymphoma 30.3 MIR222 MIR221 HULC HOTAIR
5 small cell cancer of the lung 30.1 NKX2-1 HOTTIP HOTAIR
6 glioma susceptibility 1 30.0 MIR222 MIR221 HOTAIR H19
7 oral squamous cell carcinoma 29.9 MIR221 MIR146A HOTAIR H19
8 osteogenic sarcoma 29.9 HULC HOTTIP HOTAIR H19 BANCR
9 thyroid gland cancer 29.8 NKX2-1 MIR222 MIR221 HOTAIR H19
10 pancreatic ductal adenocarcinoma 29.5 MIR222 MIR221 MIR146A HOTTIP HOTAIR H19
11 bladder cancer 29.5 MIR222 MIR221 MIR146A HULC HOTAIR H19
12 renal cell carcinoma, nonpapillary 29.4 NKX2-1 MIR221 LINC-ROR HOTAIR H19
13 esophageal cancer 29.3 MIR146A LINC-ROR HULC HOTTIP HOTAIR H19
14 melanoma 29.3 MIR222 MIR221 LINC-ROR HOTAIR H19 BANCR
15 glioma 29.2 MIR222 MIR221 HULC HOTTIP HOTAIR H19
16 pancreatic cancer 28.8 MIR222 MIR221 MIR146A LINC-ROR HULC HOTTIP
17 hepatocellular carcinoma 28.6 MIR222 MIR221 MIR146A LINC-ROR HULC HOTTIP
18 gastric cancer 28.5 MIR222 MIR221 MIR146A LINC-ROR HULC HOTTIP
19 multicentric papillary thyroid carcinoma 12.6
20 thyroid carcinoma, papillary, with papillary renal neoplasia 12.5
21 thyroid cancer, nonmedullary, 3 11.7
22 thiourea tasting 11.7
23 thyroid cancer, nonmedullary, 2 11.2
24 thyroid cancer, nonmedullary, 4 11.2
25 thyroid cancer, nonmedullary, 5 11.2
26 papillary carcinoma 10.8
27 hashimoto thyroiditis 10.7
28 hyperparathyroidism 10.6
29 primary hyperparathyroidism 10.6
30 hyperthyroidism 10.6
31 struma ovarii 10.6
32 multiple endocrine neoplasia 10.5
33 teratoma 10.5
34 pheochromocytoma 10.5
35 adrenal gland pheochromocytoma 10.5
36 47,xyy 10.5
37 histiocytosis 10.4
38 langerhans cell histiocytosis 10.4
39 fibromatosis 10.4
40 breast cancer 10.4
41 graves disease 1 10.4
42 trichorhinophalangeal syndrome, type i 10.4 MIR222 MIR221
43 familial papillary or follicular thyroid carcinoma 10.4
44 thyroid carcinoma 10.4
45 miyoshi muscular dystrophy 1 10.4 MIR222 MIR221
46 dysphagia 10.4
47 paraganglioma 10.4
48 esophagus squamous cell carcinoma 10.4 HOTAIR BANCR
49 laurence-moon syndrome 10.3
50 hemophilia b 10.3

Graphical network of the top 20 diseases related to Thyroid Cancer, Nonmedullary, 1:



Diseases related to Thyroid Cancer, Nonmedullary, 1

Symptoms & Phenotypes for Thyroid Cancer, Nonmedullary, 1

Human phenotypes related to Thyroid Cancer, Nonmedullary, 1:

31
# Description HPO Frequency HPO Source Accession
1 goiter 31 HP:0000853
2 papillary thyroid carcinoma 31 HP:0002895
3 non-medullary thyroid carcinoma 31 HP:0040198

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
nonmedullary thyroid carcinoma (papillary)
goiter, multinodular

Clinical features from OMIM:

188550

Drugs & Therapeutics for Thyroid Cancer, Nonmedullary, 1

Drugs for Thyroid Cancer, Nonmedullary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 4 33069-62-4 36314
2
Aztreonam Approved Phase 4 78110-38-0 5742832 5362041
3
Montelukast Approved Phase 4 158966-92-8 5281040
4
Theophylline Approved Phase 4 58-55-9 2153
5 Anti-Bacterial Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Albumin-Bound Paclitaxel Phase 4
8 Tubulin Modulators Phase 4
9 Antimitotic Agents Phase 4
10 Hormones Phase 4
11 Hormone Antagonists Phase 4
12 Adrenergic Agents Phase 4
13 Neurotransmitter Agents Phase 4
14 Adrenergic beta-Agonists Phase 4
15 Respiratory System Agents Phase 4
16 Phosphodiesterase Inhibitors Phase 4
17
Salmeterol xinafoate Phase 4 94749-08-3 56801
18 Leukotriene Antagonists Phase 4
19 Vasodilator Agents Phase 4
20 Anti-Asthmatic Agents Phase 4
21 Adrenergic Agonists Phase 4
22 Bronchodilator Agents Phase 4
23
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
24
Zoledronic Acid Approved Phase 3 118072-93-8 68740
25
Prazosin Approved Phase 3 19216-56-9 4893
26
Iodine Approved, Investigational Phase 3 7553-56-2 807
27
Miglustat Approved Phase 3 72599-27-0 51634
28
mometasone furoate Approved, Investigational, Vet_approved Phase 3 83919-23-7
29 Adrenergic alpha-Antagonists Phase 3
30 Antihypertensive Agents Phase 3
31 Adrenergic Antagonists Phase 3
32 Adrenergic alpha-1 Receptor Antagonists Phase 3
33 cadexomer iodine Phase 3
34 Hypoglycemic Agents Phase 3
35 Anti-Infective Agents Phase 3
36 Antiviral Agents Phase 3
37 Anti-HIV Agents Phase 3
38 Anti-Retroviral Agents Phase 3
39 Cardiac Glycosides Phase 3
40 Glycoside Hydrolase Inhibitors Phase 3
41
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
42
Indinavir Approved Phase 2 150378-17-9 5362440
43
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
44
Calcium carbonate Approved, Investigational Phase 2 471-34-1
45
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
46
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
49
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
50
Decitabine Approved, Investigational Phase 2 2353-33-5 451668

Interventional clinical trials:

(show top 50) (show all 241)
# Name Status NCT ID Phase Drugs
1 A-PACT: The Use of Inhaled Aztreonam to Eliminate or Decrease the Bacterial Burden of Pseudomonas Aeruginosa in Children With a Tracheostomy Tube. Unknown status NCT03158116 Phase 4 Inhaled Aztreonam
2 IN-PACT CORO INtimal hyPerplasia evAluated by oCT in de Novo COROnary Lesions Treated by Drug-eluting Balloon and Bare-metal Stent Unknown status NCT01057563 Phase 4
3 Feasibility of a Personalised Medicine Clinic for Children With Asthma Aged 5-11 Years Terminated NCT03269318 Phase 4 Montelukast or Salmeterol or Theophylline or Steroid
4 Prophylactic Central Lymph Node Dissection in Papillary Thyroid Microcarcinoma: A Prospective Randomized Controlled Trial Completed NCT00795782 Phase 3
5 Value of Sentinel Lymph Node Biopsy to Lateral Neck Lymph Node in Thyroid Carcinoma: Prospective Study Completed NCT01137097 Phase 2, Phase 3
6 Follow-up of Thyroid Cancer Patients From Study THYR-008-00 Who Received Thyroid Remnant Ablation Using Either the Hypothyroid or the Thyrogen Method. Completed NCT00295763 Phase 3 Thyrogen (thyrotropin alfa for injection)
7 Decision Aid on Radioactive Iodine Treatment for Early Stage Papillary Thyroid Cancer (Randomized Controlled Trial) Completed NCT01083550 Phase 2, Phase 3
8 Non-small Cell Lung Cancer Study US75 (Z-PACT) Completed NCT00086268 Phase 3 zoledronic acid;Taxotere;Carboplatin
9 Pediatric Asthma Controller Trial (PACT) Completed NCT00272506 Phase 3 inhaled corticosteroid;long-acting beta2-agonist
10 Developing a Patient Inventory to Facilitate Patient-centered Care Delivery Completed NCT01843803 Phase 2, Phase 3
11 CSP #563 - Prazosin and Combat Trauma PTSD (PACT) Completed NCT00532493 Phase 3 prazosin
12 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of Cabozantinib (XL184) in Subjects With Radioiodine-Refractory Differentiated Thyroid Cancer Who Have Progressed After Prior VEGFR-Targeted Therapy Recruiting NCT03690388 Phase 3 Cabozantinib;Placebo
13 Is Ablative Radio-iodine Necessary for Low Risk Differentiated Thyroid Cancer Patients Recruiting NCT01398085 Phase 2, Phase 3
14 Sentinel Lymph Node Biopsy in the Thyroid Carcinoma; Randomized, Prospective Study Recruiting NCT01149161 Phase 2, Phase 3
15 Models of Primary Osteoporosis Screening in Male Veterans Recruiting NCT04079868 Phase 2, Phase 3
16 Multicentre Randomised Trial of High Dose Versus Low Dose Radioiodine, With or Without Recombinant Human Thyroid Stimulating Hormone, for Remnant Ablation Following Surgery for Differentiated Thyroid Cancer [HILO] Active, not recruiting NCT00415233 Phase 3
17 A Phase 3 Double-blind Randomized Study to Assess the Efficacy and Safety of Intravenous ATB200 Co-administered With Oral AT2221 in Adult Subjects With Late Onset Pompe Disease Compared With Alglucosidase Alfa/Placebo Active, not recruiting NCT03729362 Phase 3 AT2221
18 ESTIMation of the ABiLity of Prophylactic Central Compartment Neck Dissection to Modify Outcomes in Low-risk Differentiated Thyroid Cancer Not yet recruiting NCT03570021 Phase 3
19 A Phase II Study to Investigate the Efficacy of RAD001 (Afinitor®, Everolimus) in Patients With Irresectable Recurrent or Metastatic Differentiated, Undifferentiated (Anaplastic) and Medullary Thyroid Carcinoma Unknown status NCT01118065 Phase 2 everolimus
20 A Pilot Study of Rosiglitazone in Patients With Incurable Differentiated Thyroid Cancer Unknown status NCT00098852 Phase 2 rosiglitazone maleate
21 Radiation Therapy in Combination With Indinavir / Ritonavir (Crixivan / Norvir) for the Treatment of Brain Metastases: a Randomized Phase II Study Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
22 Phase 2 Study of Selumetinib Hydrogen Sulfate in Iodine-131 Refractory Papillary Thyroid Carcinoma and Papillary Thyroid Carcinoma With Follicular Elements Completed NCT00559949 Phase 2 Selumetinib
23 Phase II Study of Cabozantinib in Patients With Radioiodine-Refractory Differentiated Thyroid Cancer Who Progressed on Prior VEGFR-Targeted Therapy Completed NCT01811212 Phase 2 Cabozantinib S-malate
24 An Open-Label, Multi-Center Phase II Study of the BRAF Inhibitor Vemurafenib in Patients With Metastatic or Unresectable Papillary Thyroid Cancer (PTC) Positive for the BRAF V600 Mutation and Resistant to Radioactive Iodine Completed NCT01286753 Phase 2 Vemurafenib
25 Sorafenib as Adjuvant to Radioiodine Therapy in Non-Medullary Thyroid Carcinoma Completed NCT00887107 Phase 2 Sorafenib (nexavar)
26 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
27 Phase 2 Study of Routine Oral Calcium and Vitamine D Supplements to Prevent Hypocalcemia After Total Thyroidectomy in Papillary Thyroid Carcinoma Patients Completed NCT00630214 Phase 2
28 A Phase 2, Open-label Study of AMG 706 to Treat Subjects With Locally Advanced or Metastatic Thyroid Cancer Completed NCT00121628 Phase 2 AMG 706
29 An Open Label Multi-Center Phase II Study of RAD001 in Advanced Thyroid Cancer Completed NCT01164176 Phase 2 everolimus
30 A Phase II Study of ZD 1839 (IRESSA®) in Patients With Advanced Thyroid Cancer Completed NCT00095836 Phase 2 Gefitinib
31 Phase II Study Of Celecoxib In Metastatic Differentiated Thyroid Carcinoma Completed NCT00061906 Phase 2 celecoxib
32 A Phase II Study of Single Agent Depsipeptide (FK228) in Radioiodine (RAI)-Refractory Metastatic Non-medullary (Papillary, Follicular, and Hurthle Cell Variants) Thyroid Carcinoma Completed NCT00098813 Phase 2 romidepsin
33 An Open-label, Phase II Study of Vemurafenib in Patients With BRAF V600 Mutation-positive Cancers Completed NCT01524978 Phase 2 cetuximab;vemurafenib;vemurafenib
34 Phase II Study of Decitabine in Patients With Metastatic Papillary Thyroid Cancer or Follicular Thyroid Cancer Unresponsive to Radioiodine Completed NCT00085293 Phase 2 Decitabine
35 Sutent Adjunctive Treatment of Differentiated Thyroid Cancer Completed NCT00668811 Phase 2 SU011248, Sutent
36 A Phase II Study of Bortezomib in Metastatic Papillary Thyroid Carcinoma or Follicular Thyroid Carcinoma Completed NCT00104871 Phase 2 Bortezomib
37 Phase II Trial of Thalidomide for Therapy of Radioiodine-Unresponsive Papillary and Follicular Thyroid Carcinomas and Medullary Thyroid Carcinomas Completed NCT00026533 Phase 2 thalidomide
38 A Broad Multi-Histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-Small Cell Lung, Head and Neck, Hepatocellular and Renal Cell Carcinomas and Pheochromocytoma and Thyroid Tumors Completed NCT00923481 Phase 2 Fostamatinib disodium
39 Randomized Controlled Trial of Total Thyroidectomy With and Without Prophylactic Central Neck Lymph Node Dissection in Patients With Low-risk Papillary Thyroid Cancer Completed NCT02408887 Phase 2
40 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
41 A Randomized, Multicenter, Open-label, Phase II Study of the Optimal Scheme of Administration of Pazopanib in Thyroid Carcinoma Completed NCT01813136 Phase 2 Continuous pazopanib (Arm A);Intermittent pazopanib (Arm B)
42 A Phase II Study of Single Agent Intravenous (IV) VEGF Trap in Patients With Poor Prognostic Recurrent and/or Metastatic Thyroid Cancer After RAI Therapy Completed NCT00729157 Phase 2
43 Vaccine Therapy With Tumor Specific Mutated Ras Peptides and IL-2 or GM-CSF for Adult Patients With Solid Tumors Completed NCT00019331 Phase 2 DetoxPC
44 The Participant Agreement for Contact Tracing (PACT) Study: Enhancing Partner Notification Services. Completed NCT00207493 Phase 1, Phase 2
45 A Phase 1/2, Open-Label, Dose-Escalation And Expansion Study Of Entrectinib (Rxdx-101) In Pediatrics With Locally Advanced Or Metastatic Solid Or Primary CNS Tumors And/Or Who Have No Satisfactory Treatment Options Recruiting NCT02650401 Phase 1, Phase 2 Entrectinib
46 A Phase 1/2 Multicenter, Open-Label, Dose-Escalation and Dose-Expansion Study to Evaluate the Safety, Pharmacokinetics, Pharmacodynamics, and Antitumor Activity of AO-176 Recruiting NCT03834948 Phase 1, Phase 2 AO-176
47 A Phase II Study of Durvalumab (MEDI4736) Plus Tremelimumab for the Treatment of Patients With Progressive, Refractory Advanced Thyroid Carcinoma - The DUTHY Trial Recruiting NCT03753919 Phase 2 Durvalumab;Tremelimumab
48 An Open-Label, Multicenter, Global Phase 2 Basket Study of Entrectinib for the Treatment of Patients With Locally Advanced or Metastatic Solid Tumors That Harbor NTRK1/2/3, ROS1, or ALK Gene Rearrangements Recruiting NCT02568267 Phase 2 Entrectinib
49 A Phase 2 Study of Lenvatinib in Combination With Radioactive Iodine Therapy in Patients With Progressive RAI-Sensitive Differentiated Thyroid Cancer Recruiting NCT03506048 Phase 2 Lenvatinib
50 A Phase 1/2 Study of the Oral RET Inhibitor LOXO 292 in Pediatric Patients With Advanced RET-Altered Solid or Primary Central Nervous System Tumors Recruiting NCT03899792 Phase 1, Phase 2 LOXO-292

Search NIH Clinical Center for Thyroid Cancer, Nonmedullary, 1

Genetic Tests for Thyroid Cancer, Nonmedullary, 1

Genetic tests related to Thyroid Cancer, Nonmedullary, 1:

# Genetic test Affiliating Genes
1 Papillary Thyroid Carcinoma 29
2 Nonmedullary Thyroid Carcinoma 1 29 NKX2-1

Anatomical Context for Thyroid Cancer, Nonmedullary, 1

MalaCards organs/tissues related to Thyroid Cancer, Nonmedullary, 1:

40
Thyroid, Lymph Node, Breast, Lung, Testes, Bone, Endothelial

Publications for Thyroid Cancer, Nonmedullary, 1

Articles related to Thyroid Cancer, Nonmedullary, 1:

(show top 50) (show all 7558)
# Title Authors PMID Year
1
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. 61 56 54 6
19176457 2009
2
High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. 54 56 6 61
12670889 2003
3
Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. 54 6 56
15181070 2004
4
Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. 6 61 54
17785355 2007
5
Comparison of the breakpoint regions of ELE1 and RET genes involved in the generation of RET/PTC3 oncogene in sporadic and in radiation-associated papillary thyroid carcinomas. 61 54 56
9192845 1997
6
Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype. 61 56 54
1569189 1992
7
The polymorphism rs944289 predisposes to papillary thyroid carcinoma through a large intergenic noncoding RNA gene of tumor suppressor type. 61 56
22586128 2012
8
Clinicopathological analysis of papillary thyroid cancer with PIK3CA alterations in a Middle Eastern population. 54 56
18000091 2008
9
Trisomy 17 as a marker for a subset of noninvasive thyroid nodules with focal features of papillary carcinoma: cytogenetic and molecular analysis of 62 cases and correlation with histological findings. 56 61
17956956 2008
10
BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. 6 54
17488796 2007
11
Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. 6 54
16772349 2006
12
BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. 6 54
16174717 2005
13
High prevalence and possible de novo formation of BRAF mutation in metastasized papillary thyroid cancer in lymph nodes. 6 54
15998781 2005
14
Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas. 6 54
15687339 2005
15
Silencing of the maternally imprinted tumor suppressor ARHI contributes to follicular thyroid carcinogenesis. 61 56
15546898 2005
16
Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas. 6 54
15356022 2004
17
BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. 6 54
15126572 2004
18
BRAF T1796A transversion mutation in various thyroid neoplasms. 54 6
15001635 2004
19
BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. 54 6
14602780 2003
20
Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. 56 54
12970315 2003
21
Efficient inhibition of RET/papillary thyroid carcinoma oncogenic kinases by 4-amino-5-(4-chloro-phenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine (PP2). 61 56
12679489 2003
22
Ret/PTC chimeric transcripts in an Irish cohort of sporadic papillary thyroid carcinoma. 56 61
12574236 2003
23
The kinase inhibitor PP1 blocks tumorigenesis induced by RET oncogenes. 56 61
11861385 2002
24
Papillary thyroid carcinoma: 6 cases from 2 families with associated lymphocytic thyroiditis harbouring RET/PTC rearrangements. 61 56
11747322 2001
25
RET/PTC rearrangements in thyroid nodules: studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults. 56 54
11443191 2001
26
Increased expression of the vascular endothelial growth factor is a pejorative prognosis marker in papillary thyroid carcinoma. 61 56
11158026 2001
27
RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma. 61 56
10980597 2000
28
Prevalence and distribution of ret/ptc 1, 2, and 3 in papillary thyroid carcinoma in New Caledonia and Australia. 61 56
10946873 2000
29
The ret/PTC mutations are common in sporadic papillary thyroid carcinoma of children and young adults. 61 56
10720057 2000
30
Loss of heterozygosity of the long arm of chromosome 7 in follicular and anaplastic thyroid cancer, but not in papillary thyroid cancer. 56 54
10487693 1999
31
Distinct multiple RET/PTC gene rearrangements in multifocal papillary thyroid neoplasia. 61 56
9814501 1998
32
Frequent activation of ret protooncogene by fusion with a new activating gene in papillary thyroid carcinomas. 56 54
8187085 1994
33
Familial occurrence of papillary thyroid carcinoma. 56 61
7214311 1980
34
Codon-specific translation reprogramming promotes resistance to targeted therapy. 6
29925953 2018
35
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. 6
28854169 2017
36
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. 6
25079330 2014
37
Copper is required for oncogenic BRAF signalling and tumorigenesis. 6
24717435 2014
38
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. 6
24670642 2014
39
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. 6
24512911 2014
40
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence. 6
23685455 2013
41
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. 6
23302800 2013
42
Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. 6
22281684 2012
43
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). 6
22113612 2011
44
COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 6
21107320 2010
45
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. 6
21107323 2010
46
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. 6
20823850 2010
47
Inhibition of mutated, activated BRAF in metastatic melanoma. 6
20818844 2010
48
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. 56
20350937 2010
49
Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies. 56
20628519 2010
50
miRNA expression in a human papillary thyroid carcinoma cell line varies with invasiveness. 46 61
19851034 2010

Variations for Thyroid Cancer, Nonmedullary, 1

ClinVar genetic disease variations for Thyroid Cancer, Nonmedullary, 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu)SNV Pathogenic,drug response 13961 rs113488022 7:140453136-140453136 7:140753336-140753336
2 LIG4 NM_002312.3(LIG4):c.1673A>C (p.Gln558Pro)SNV Likely pathogenic 620632 rs751409106 13:108861944-108861944 13:108209596-108209596
3 NKX2-1 NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)SNV Conflicting interpretations of pathogenicity 487553 rs537209983 14:36986583-36986583 14:36517378-36517378
4 PCM1 NM_006197.4(PCM1):c.2935C>T (p.Gln979Ter)SNV Uncertain significance 225430 rs1085307084 8:17823587-17823587 8:17966078-17966078
5 PALB2 NM_024675.3(PALB2):c.2147A>G (p.Asn716Ser)SNV Uncertain significance 232654 rs148335539 16:23641328-23641328 16:23630007-23630007
6 RUNX1 NM_001754.4(RUNX1):c.749G>A (p.Arg250His)SNV Uncertain significance 239055 rs771614642 21:36206763-36206763 21:34834466-34834466
7 CDH1 NM_004360.5(CDH1):c.2351G>C (p.Arg784Pro)SNV Uncertain significance 620631 rs763203357 16:68863612-68863612 16:68829709-68829709
8 MSH2 NM_000251.2(MSH2):c.1706A>G (p.Glu569Gly)SNV Uncertain significance 183783 rs786201077 2:47698148-47698148 2:47471009-47471009

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Cancer, Nonmedullary, 1:

73
# Symbol AA change Variation ID SNP ID
1 NKX2-1 p.Ala339Val VAR_075769 rs537209983

Copy number variations for Thyroid Cancer, Nonmedullary, 1 from CNVD:

7 (show all 16)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13343 1 1 124300000 Chromosomal rearrangement Papillary thyroid carcinoma
2 13804 1 1 60900000 Chromosomal rearrangement Papillary thyroid carcinoma
3 19995 1 152394403 152431233 Translate TPM3 Papillary thyroid carcinoma
4 42899 10 42100000 53300000 Chromosomal rearrangement Papillary thyroid carcinoma
5 44673 10 61218526 61336824 Translate D10S170 Papillary thyroid carcinoma
6 91970 15 37900000 47600000 Copy number FGF7 Papillary thyroid carcinoma
7 95418 15 76100000 86900000 Copy number AKAP13 Papillary thyroid carcinoma
8 96732 15 92330402 92376057 Translate GOLGA5 Papillary thyroid carcinoma
9 106730 17 1 11200000 Copy number TRE2 Papillary thyroid carcinoma
10 140387 2 197100000 209100000 Copy number TRAK2 Papillary thyroid carcinoma
11 148729 2 83700000 91000000 Amplification TB10 Papillary thyroid carcinoma
12 166063 3 1 14700000 Chromosomal rearrangement Papillary thyroid carcinoma
13 166395 3 101910849 101950501 Translate TFG Papillary thyroid carcinoma
14 194280 5 139000000 143100000 Copy number EIF4EBP3 Papillary thyroid carcinoma
15 219438 7 126900000 158821424 Chromosomal rearrangement Papillary thyroid carcinoma
16 232143 8 112100000 146364022 Amplification Papillary thyroid cancer

Expression for Thyroid Cancer, Nonmedullary, 1

Search GEO for disease gene expression data for Thyroid Cancer, Nonmedullary, 1.

Pathways for Thyroid Cancer, Nonmedullary, 1

Pathways related to Thyroid Cancer, Nonmedullary, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.7 LINC-ROR HOTAIR

GO Terms for Thyroid Cancer, Nonmedullary, 1

Biological processes related to Thyroid Cancer, Nonmedullary, 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.7 MIR222 MIR221 MIR146A
2 miRNA mediated inhibition of translation GO:0035278 9.69 MIR222 MIR221 MIR146A
3 positive regulation of erythrocyte differentiation GO:0045648 9.56 MIR222 MIR221
4 endoderm development GO:0007492 9.55 NKX2-1 APELA
5 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.54 MIR146A APELA
6 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.54 MIR222 MIR221 MIR146A
7 negative regulation of cell adhesion molecule production GO:0060354 9.49 MIR222 MIR221
8 positive regulation of axon regeneration GO:0048680 9.48 MIR222 MIR221
9 negative regulation by host of viral genome replication GO:0044828 9.46 MIR222 MIR221
10 negative regulation of interleukin-21 biosynthetic process GO:0045391 9.43 MIR222 MIR221
11 negative regulation of interleukin-21 production GO:0032705 9.4 MIR222 MIR221
12 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.32 MIR222 MIR221
13 positive regulation of Schwann cell migration GO:1900149 9.26 MIR222 MIR221
14 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.16 MIR222 MIR221
15 negative regulation of hematopoietic stem cell proliferation GO:1902034 8.96 MIR222 MIR221
16 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 8.8 MIR222 MIR221 MIR146A

Sources for Thyroid Cancer, Nonmedullary, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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