MTC
MCID: THY111
MIFTS: 67

Thyroid Carcinoma, Familial Medullary (MTC)

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

Aliases & Classifications for Thyroid Carcinoma, Familial Medullary

MalaCards integrated aliases for Thyroid Carcinoma, Familial Medullary:

Name: Thyroid Carcinoma, Familial Medullary 56 12 54
Medullary Thyroid Carcinoma 56 74 58 73 29 13 6
Familial Medullary Thyroid Carcinoma 12 58 29 6 15 71
Mtc 56 58 73
Medullary Thyroid Cancer 52 36
Carcinoma, Thyroid, Medullary, Familial 39
Medullary Carcinoma of Thyroid 71
Thyroid Carcinoma, Medullary 52
Thyroid Carcinoma Medullary 54
Thyroid Cancer, Medullary 52
Familial Mtc 58
Fmtc 56
Mtc1 56

Characteristics:

Orphanet epidemiological data:

58
medullary thyroid carcinoma
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: Adult;
familial medullary thyroid carcinoma
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
thyroid carcinoma, familial medullary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050547
OMIM 56 155240
KEGG 36 H01592
MESH via Orphanet 44 C536911 C536914
ICD10 via Orphanet 33 C73
UMLS via Orphanet 72 C0238462 C1833921
MedGen 41 C1833921
UMLS 71 C0238462 C1833921

Summaries for Thyroid Carcinoma, Familial Medullary

KEGG : 36 Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer deaths due to its more aggressive clinical behavior compared with well-differentiated papillary and follicular thyroid carcinomas. A subset of MTC cases is hereditary and due to germline mutations in the RET tyrosine kinase receptor gene. Somatic mutations in either RET or RAS are also present in most sporadic tumors. In MTC, RET mutations lead to substrate-independent dimerization of the receptor causing constitutive activation, unrestricted signaling, and ultimately, cancer.

MalaCards based summary : Thyroid Carcinoma, Familial Medullary, also known as medullary thyroid carcinoma, is related to multiple endocrine neoplasia, type iib and multiple endocrine neoplasia, type iia. An important gene associated with Thyroid Carcinoma, Familial Medullary is RET (Ret Proto-Oncogene), and among its related pathways/superpathways are Pathways in cancer and Neuroscience. The drugs Iodine and Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and lymph node, and related phenotypes are medullary thyroid carcinoma and elevated calcitonin

Disease Ontology : 12 A thyroid gland medullary carcinoma that has material basis in autosomal dominant inheritance.

OMIM : 56 Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (114130)-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see 171400)/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see 188550. (155240)

UniProtKB/Swiss-Prot : 73 Medullary thyroid carcinoma: Rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and where MTC is the only clinical manifestation.

Wikipedia : 74 Medullary thyroid cancer is a form of thyroid carcinoma which originates from the parafollicular cells... more...

Related Diseases for Thyroid Carcinoma, Familial Medullary

Diseases related to Thyroid Carcinoma, Familial Medullary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 532)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 33.2 RET NTRK1 MEN1 GFRA1 GDNF CALCA
2 multiple endocrine neoplasia, type iia 33.0 VHL RET NTRK1 MEN1 GFRA1 GDNF
3 thyroid tumor 31.6 TG RET PRKAR1A KRAS
4 rare tumor 31.6 SST RET
5 neuroma 31.5 RET GDNF CALCA
6 thyroiditis 31.5 TG RET NKX2-1 CALCA
7 hereditary paraganglioma-pheochromocytoma syndromes 31.3 VHL RET GDNF
8 multinodular goiter 31.3 TG RET NKX2-1 CALCA
9 differentiated thyroid carcinoma 31.2 TG RET NTRK1 NKX2-1 KRAS
10 papillary carcinoma 31.2 TG RET NTRK1 NKX2-1 CHGA CALCA
11 hypothyroidism 31.1 TG SST RET NKX2-1 CALCA
12 endocrine gland cancer 31.1 SST RET GAST CHGA
13 thyroid carcinoma 31.0 TG RET NTRK1 NKX2-1 CALCA
14 multiple mucosal neuroma 31.0 RET NTRK1 GDNF CALCA
15 malignant pheochromocytoma 31.0 SST CHGA CALCA
16 adenoma 30.9 VHL TG SST RET PRKAR1A MEN1
17 nodular goiter 30.9 TG RET CALCA
18 thyroid gland disease 30.9 TG SST RET NKX2-1 CEACAM5 CALCA
19 paraganglioma 30.9 VHL TG SST RET MEN1 CHGA
20 conn's syndrome 30.9 SST PRKAR1A MEN1 CHGA CALCA
21 hyperparathyroidism 30.9 RET PRKAR1A MEN1 GAST CHGA CALCA
22 carcinoid tumors, intestinal 30.8 SST NKX2-1 MEN1 GAST CHGA
23 renal hypodysplasia/aplasia 1 30.8 RET GFRA1 GDNF
24 pituitary adenoma 30.8 SST PRKAR1A MEN1 MALAT1 CHGA
25 goiter 30.8 TG SST RET NKX2-1 CALCA
26 carney complex variant 30.7 SST RET PRKAR1A MEN1
27 thyroid gland anaplastic carcinoma 30.7 TG RET NTRK1 NKX2-1 CALCA
28 fetal adenoma 30.7 TG CALCA
29 parathyroid carcinoma 30.7 RET MEN1 CALCA
30 descending colon cancer 30.7 KRAS CEACAM5
31 multiple endocrine neoplasia, type iv 30.6 RET PRKAR1A MEN1
32 hirschsprung disease 1 30.6 RET NTRK1 GFRA1 GDNF CALCA ASCL1
33 thyroid gland follicular carcinoma 30.6 TG RET NTRK1 NKX2-1 CALCA
34 acth-secreting pituitary adenoma 30.6 SST PRKAR1A MEN1
35 papillary thyroid microcarcinoma 30.6 TG NKX2-1 CALCA
36 pheochromocytoma-paraganglioma 30.6 VHL RET
37 megacolon 30.6 RET NTRK1 GFRA1 GDNF
38 adrenal cortical adenoma 30.6 PRKAR1A MEN1 CHGA
39 adrenal cortical carcinoma 30.6 PRKAR1A MEN1 CHGA
40 neuroendocrine carcinoma 30.6 SST NKX2-1 MEN1 GAST CHGA CEACAM5
41 ganglioneuroma 30.6 SST RET NTRK1 CHGA
42 parathyroid adenoma 30.6 RET PRKAR1A MEN1 GAST CHGA CALCA
43 primary hyperparathyroidism 30.6 RET PRKAR1A MEN1 GAST CHGA CALCA
44 duodenal somatostatinoma 30.5 SST MEN1
45 intestinal obstruction 30.5 SST RET GDNF CEACAM5
46 follicular adenoma 30.5 TG RET NTRK1 NKX2-1 MEN1 CALCA
47 vesicoureteral reflux 1 30.5 RET GFRA1 GDNF
48 neuroblastoma 30.5 SST RET NTRK1 MEN1 MALAT1 GDNF
49 neurofibromatosis, type i 30.5 VHL SST RET MEN1
50 von hippel-lindau syndrome 30.5 VHL RET MEN1 CHGA

Graphical network of the top 20 diseases related to Thyroid Carcinoma, Familial Medullary:



Diseases related to Thyroid Carcinoma, Familial Medullary

Symptoms & Phenotypes for Thyroid Carcinoma, Familial Medullary

Human phenotypes related to Thyroid Carcinoma, Familial Medullary:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 medullary thyroid carcinoma 58 31 obligate (100%) Obligate (100%) HP:0002865
2 elevated calcitonin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003528
3 nodular goiter 58 31 hallmark (90%) Very frequent (99-80%) HP:0005994
4 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
5 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
6 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0002716
7 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
8 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
9 neoplasm of the lung 58 31 occasional (7.5%) Occasional (29-5%) HP:0100526
10 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
11 pheochromocytoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002666
12 neoplasm of the skeletal system 58 31 occasional (7.5%) Occasional (29-5%) HP:0010622
13 primary hyperparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008200
14 abnormal liver parenchyma morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030146

Symptoms via clinical synopsis from OMIM:

56
Oncology:
medullary thyroid carcinoma
no other primary tumors

Clinical features from OMIM:

155240

GenomeRNAi Phenotypes related to Thyroid Carcinoma, Familial Medullary according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.19 KRAS
2 Decreased viability GR00055-A-2 10.19 KRAS
3 Decreased viability GR00055-A-3 10.19 KRAS
4 Decreased viability GR00106-A-0 10.19 KRAS
5 Decreased viability GR00221-A-1 10.19 KRAS PRKAR1A RAF1 RET VHL
6 Decreased viability GR00221-A-2 10.19 KRAS PRKAR1A RAF1 RET VHL
7 Decreased viability GR00221-A-3 10.19 PRKAR1A NTRK1
8 Decreased viability GR00221-A-4 10.19 PRKAR1A RET
9 Decreased viability GR00249-S 10.19 VHL NTRK1
10 Decreased viability GR00301-A 10.19 KRAS RAF1 RET VHL NTRK1
11 Decreased viability GR00381-A-1 10.19 KRAS
12 Decreased viability GR00402-S-2 10.19 RAF1 RET

MGI Mouse Phenotypes related to Thyroid Carcinoma, Familial Medullary:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ASCL1 ESR2 GDNF GFRA1 KRAS NKX2-1
2 growth/size/body region MP:0005378 10.3 ASCL1 CHGA ESR2 GDNF KRAS MEN1
3 endocrine/exocrine gland MP:0005379 10.29 ASCL1 CHGA ESR2 GAST GDNF KRAS
4 mortality/aging MP:0010768 10.28 ASCL1 CHGA ESR2 GAST GDNF GFRA1
5 digestive/alimentary MP:0005381 10.27 ESR2 GAST GDNF GFRA1 KRAS MEN1
6 cellular MP:0005384 10.25 ASCL1 ESR2 GDNF GFRA1 KRAS MEN1
7 immune system MP:0005387 10.25 ESR2 GAST GDNF GFRA1 KRAS MEN1
8 cardiovascular system MP:0005385 10.22 CHGA ESR2 GDNF KRAS MEN1 NKX2-1
9 muscle MP:0005369 10.11 CHGA ESR2 GDNF GFRA1 KRAS MEN1
10 nervous system MP:0003631 10.07 ASCL1 CHGA ESR2 GDNF GFRA1 KRAS
11 neoplasm MP:0002006 9.97 ESR2 GAST KRAS MEN1 NKX2-1 PRKAR1A
12 no phenotypic analysis MP:0003012 9.81 ASCL1 CHGA ESR2 KRAS NKX2-1 NTRK1
13 normal MP:0002873 9.7 ASCL1 ESR2 GFRA1 KRAS NKX2-1 NTRK1
14 reproductive system MP:0005389 9.32 CHGA ESR2 GDNF KRAS MEN1 NKX2-1

Drugs & Therapeutics for Thyroid Carcinoma, Familial Medullary

Drugs for Thyroid Carcinoma, Familial Medullary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2
Tyrosine Approved, Investigational, Nutraceutical Phase 4 60-18-4 6057
3 cadexomer iodine Phase 4
4
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
5
Glucagon Approved Phase 3 16941-32-5
6
Cinacalcet Approved Phase 3 226256-56-0 156419
7 Calcium, Dietary Phase 3
8 Glucagon-Like Peptide 1 Phase 3
9 Insulin, Globin Zinc Phase 3
10 insulin Phase 3
11
Calcium Nutraceutical Phase 3 7440-70-2 271
12
Loperamide Approved Phase 1, Phase 2 53179-11-6 3955
13
Pasireotide Approved Phase 2 396091-73-9 9941444
14
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
15
Panobinostat Approved, Investigational Phase 2 404950-80-7 6918837
16
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
17
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
18
Pembrolizumab Approved Phase 2 1374853-91-4
19
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
20
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
21
Coal tar Approved Phase 1, Phase 2 8007-45-2
22
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
23
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
24
Docetaxel Approved, Investigational Phase 1, Phase 2 114977-28-5 148124
25
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
26
Liraglutide Approved Phase 2 204656-20-2 44147092
27
Niraparib Approved, Investigational Phase 1, Phase 2 1038915-60-4 24958200
28
Nintedanib Approved Phase 2 656247-17-5 56843413
29
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
30
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
31
Lenvatinib Approved, Investigational Phase 2 417716-92-8
32
Levodopa Approved Phase 2 59-92-7 6047
33
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
34
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
35
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
36
Dacarbazine Approved, Investigational Phase 1, Phase 2 4342-03-4 5351166
37
Capecitabine Approved, Investigational Phase 1, Phase 2 154361-50-9 60953
38
Lithium carbonate Approved Phase 2 554-13-2
39
Ponatinib Approved, Investigational Phase 2 943319-70-8 24826799
40
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
41
Glycine Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 56-40-6 750
42
Aspartic acid Approved, Nutraceutical Phase 2 56-84-8 5960
43
Asparagine Approved, Investigational, Nutraceutical Phase 2 70-47-3 6267
44
Imetelstat Investigational Phase 2 868169-64-6
45
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
46 Antidiarrheals Phase 1, Phase 2
47 Calcium Aluminosilicate Phase 1, Phase 2
48
Motesanib diphosphate Phase 2 850649-62-6 11450633
49 Immunosuppressive Agents Phase 2
50 Immunologic Factors Phase 2

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 The Use of Lu177 in the Treatment of Progressive and Unresectable Metastatic Medullary Thyroid Cancer Unknown status NCT01915485 Phase 4
2 A Dosimetry Study of Radioiodine (131-I) Uptake Following the Administration of Thyrogen and Hypothyroid States During Thyroid Hormone Withdrawal Completed NCT00001730 Phase 4 Thyrogen
3 A Randomized, Double-blind Study To Evaluate the Efficacy and Safety of Cabozantinib (XL184) at 60 mg/Day Compared to a 140 mg/Day in Progressive, Metastatic Medullary Thyroid Cancer Patients Recruiting NCT01896479 Phase 4 Cabozantinib (XL184) 140 mg;Cabozantinib (XL184) 60 mg;Placebo tablet;Placebo capsule
4 An International, Randomised, Double-Blind, Two-Arm Study To Evaluate The Safety And Efficacy Of Vandetanib 150 And 300mg/Day In Patients With Unresectable Locally Advanced Or Metastatic Medullary Thyroid Carcinoma With Progressive Or Symptomatic Disease Active, not recruiting NCT01496313 Phase 4 300mg vandetanib;150mg vandetanib
5 Therapeutic Role of Levothyroxine on the Patients With Atypia of Undetermined Significance (AUS) Goiter Withdrawn NCT02329379 Phase 4 Levothyroxine
6 A Randomized, Double-blind, Placebo-controlled, Multicenter Clinical Trial to Compare the Efficacy and Safety of Anlotinib Versus Placebo in Patients With Medullary Thyroid Carcinoma(ALTER01031) Completed NCT02586350 Phase 2, Phase 3 Anlotinib;Placebo
7 Cinacalcet Actions in Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
8 Liraglutide in the Treatment of Type 1 Diabetes Mellitus Completed NCT01722266 Phase 3 Liraglutide;Placebo
9 A Multicenter, Randomized, Open-label, Phase 3 Trial Comparing Selpercatinib to Physicians Choice of Cabozantinib or Vandetanib in Patients With Progressive, Advanced, Kinase Inhibitor Naïve, RET-Mutant Medullary Thyroid Cancer (LIBRETTO-531) Recruiting NCT04211337 Phase 3 Selpercatinib;Cabozantinib;Vandetanib
10 An International, Phase III, Randomized, Double-Blinded, Placebo-Controlled, Multi-Center Study to Assess the Efficacy of ZD6474 (ZACTIMATM) Versus Placebo in Subjects With Unresectable Locally Advanced or Metastatic Medullary Thyroid Cancer Active, not recruiting NCT00410761 Phase 3 ZD6474 (Vandetanib)
11 An International, Randomized, Double-Blinded, Phase 3 Efficacy Study of XL184 Versus Placebo in Subjects With Unresectable, Locally Advanced, or Metastatic Medullary Thyroid Cancer Active, not recruiting NCT00704730 Phase 3 XL184;Placebo
12 A Randomized,Int.,Open-Label Phase III Study to Assess the Effect of a Patient Outreach Program on the Percentage of Time Patients With Locally Advanced or Metastatic MTC Experience Grade 2 or Higher AEs in the First 12 Months of Treatment With Vandetanib Active, not recruiting NCT01298323 Phase 3 Vandetanib
13 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
14 The Efficacy of CASAD in Patients With Diarrhea Related to Medullary Thyroid Cancer Unknown status NCT01739634 Phase 1, Phase 2 CASAD
15 A Phase I/II, Open-label Study to Evaluate the Safety and Tolerability of Vandetanib 300 mg/Day in Japanese Patients With Unresectable Locally Advanced or Metastatic Medullary Thyroid Carcinoma Completed NCT01661179 Phase 1, Phase 2 Vandetanib 300mg
16 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
17 Mono Centre, Open Label Proof of Concept Study SOM230 in Progressive Medullary Thyroid Cancer Patients and the Combination With RAD001 Upon Progression Completed NCT01625520 Phase 2 SOM230 alone or in combination with RAD001.
18 Phase II Study of Sunitinib in Iodine Refractory Differentiated Thyroid Cancer and Metastatic Medullary Carcinoma of Thyroid With Functional Imaging Correlation Completed NCT00519896 Phase 2 sunitinib malate
19 A Phase II Trial of 17-Allylaminogeldanamycin (17AAG) in Advanced Medullary and Differentiated Thyroid Carcinoma Completed NCT00118248 Phase 2 tanespimycin
20 A Phase II, Open-Label Study To Assess The Efficacy and Tolerability of ZD6474 (ZACTIMA™ ) 100 mg Monotherapy In Subjects With Locally Advanced or Metastatic Hereditary Medullary Thyroid Cancer Completed NCT00358956 Phase 2 ZD6474 (vandetanib)
21 A Multi-center, Single-arm, Open-label Phase II Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Sorafenib in Japanese Patients With Anaplastic Thyroid Carcinoma or Locally Advanced or Metastatic Medullary Thyroid Carcinoma Completed NCT02114658 Phase 2 Sorafenib (Nexavar,BAY43-9006)
22 Phase II Two-step Radioimmunotherapy Clinical Study in Medullary Thyroid Carcinoma Completed NCT00467506 Phase 2 bispecific antibody and di-DTPA-131I
23 An Open Label, Two Stage, Phase II Study to Evaluate the Efficacy and Tolerability of ZD6474 in Patients With Locally Advanced or Metastatic Hereditary Medullary Thyroid Carcinoma. Completed NCT00098345 Phase 2 ZD6474 (vandetanib)
24 Phase 2 Study of Anlotinib in Advanced Medullary Thyroid Carcinoma Completed NCT01874873 Phase 2 Anlotinib
25 A Phase II Trial of LBH589 in Patients With Metastatic Medullary Thyroid Cancer and Radioactive Iodine Resistant Differentiated Thyroid Cancer Completed NCT01013597 Phase 2 LBH589
26 A Multi-center , Opened, Phase II Study of Safety and Efficacy of Sulfatinib in Advanced Medullary Thyroid Carcinoma ( MTC) and Iodine-refractory Differentiated Thyroid Carcinoma (DTC) Completed NCT02614495 Phase 2 Surufatinib
27 Pharmacokinetic and Imaging Optimization Study of Pretargeted Immuno-PET Using the Anti-CEA x Anti-HSG TF2 Bispecific Antibody and 68Ga-IMP-288 Peptide in Patients With Recurrences of Medullary Thyroid Carcinoma. Completed NCT01730638 Phase 1, Phase 2 • TF2 and 68 Ga-IMP-288
28 Sorafenib as Adjuvant to Radioiodine Therapy in Non-Medullary Thyroid Carcinoma Completed NCT00887107 Phase 2 Sorafenib (nexavar)
29 Phase II Trial of Pembrolizumab in Recurrent or Metastatic Medullary Thyroid Cancer Completed NCT03072160 Phase 2 Pembrolizumab
30 Phase 2 of Sunitinib (Sutent) in Patients With Locally Advanced or Metastatic Anaplastic, Differentiated or Medullar Thyroid Cancer Completed NCT00510640 Phase 2 Sunitinib
31 Phase II Trial of Thalidomide for Therapy of Radioiodine-Unresponsive Papillary and Follicular Thyroid Carcinomas and Medullary Thyroid Carcinomas Completed NCT00026533 Phase 2 thalidomide
32 Phase I/II Radioimmunotherapy With High-Dose 90Y-Labeled Humanized MN-14 Alone or Combined With Doxorubicin and Peripheral Blood Stem Cell Rescue (PBSCR) in Medullary Thyroid Cancer (MTC) Grant Application Title: Radioimmunotherapy of MTC With Y-90 Humanized MN14 Anti-CEA Mab and Doxorubicin Completed NCT00004048 Phase 1, Phase 2 doxorubicin hydrochloride
33 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
34 Phase II, Multicenter, Open-label, Single Arm Trial to Evaluate the Safety and Efficacy of Oral E7080 in Medullary and Iodine-131 Refractory, Unresectable Differentiated Thyroid Cancers, Stratified by Histology Completed NCT00784303 Phase 2 Lenvatinib (DTC Cohort);Lenvatinib (MTC Cohort)
35 A 3-Arm Randomized Phase II Trial Evaluating Single Agent and Combined Efficacy of Pasireotide and Everolimus in Adult Patients With Radioiodine-Refractory Differentiated and Medullary Thyroid Cancer Completed NCT01270321 Phase 2 Everolimus;Pasireotide;Everolimus and Pasireotide
36 A Phase I/II Study of Active Immunotherapy With CEA(6D)VRP Vaccine(AVX701)in Patients With Advanced or Metastatic Malignancies Expressing CEA or Stage III Colon Cancer Completed NCT00529984 Phase 1, Phase 2
37 A Phase II Trial of Valproic Acid in Patients With Advanced Thyroid Cancers of Follicular Origin Completed NCT01182285 Phase 2 Valproic Acid;Liothyronine Sodium
38 A Phase I and Randomized Phase II Multicenter Study of Cabozantinib (XL184) Plus Docetaxel and Prednisone in Metastatic Castrate Resistant Prostate Cancer Completed NCT01683994 Phase 1, Phase 2 Cabozantinib;Docetaxel;Prednisone
39 Phase II Study of Capecitabine and Temozolomide for Progressive, Differentiated, Metastatic Neuroendocrine Cancers Completed NCT00869050 Phase 2 Capecitabine;Temozolomide
40 A Phase 2 Study of Oral LOXO-292 in Patients With Advanced Solid Tumors, Including Rearranged in Transfection (RET) Fusion-Positive Solid Tumors, Medullary Thyroid Cancer and Other Tumors With RET Activation Recruiting NCT04280081 Phase 2 Selpercatinib
41 A Phase 1/2 Study of Oral LOXO-292 in Patients With Advanced Solid Tumors, Including RET Fusion-Positive Solid Tumors, Medullary Thyroid Cancer, and Other Tumors With RET Activation (LIBRETTO-001) Recruiting NCT03157128 Phase 1, Phase 2 LOXO-292 (selpercatinib)
42 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
43 A Phase 1/2 Study of the Highly-selective RET Inhibitor, BLU-667, in Patients With Thyroid Cancer, Non-Small Cell Lung Cancer (NSCLC) and Other Advanced Solid Tumors Recruiting NCT03037385 Phase 1, Phase 2 pralsetinib (BLU-667)
44 A Phase II Study Using Regorafenib as Second or Third Line Therapy in Metastatic Medullary Thyroid Cancer Recruiting NCT02657551 Phase 2 Regorafenib
45 A Phase 1/2 Study of TPX-0046, A Novel Oral RET/SRC Inhibitor in Adult Subjects With Advanced/Metastatic Solid Tumors Harboring Oncogenic RET Fusions or Mutations Recruiting NCT04161391 Phase 1, Phase 2 TPX-0046
46 A Phase II Study of Cabozantinib in Patients With RET Fusion-Positive Advanced Non-Small Cell Lung Cancer and Those With Other Genotypes: ROS1 or NTRK Fusions or Increased MET or AXL Activity Recruiting NCT01639508 Phase 2 Cabozantinib
47 A Phase I-II Study to Evaluate the Efficacy and Safety of Niraparib in Combination With Cabozantinib (XL184) in Patients With Advanced Urothelial Cancer After Failure to First-line Platinum-based Chemotherapy Recruiting NCT03425201 Phase 1, Phase 2 Niraparib plus Cabozantinib
48 A Randomized, Placebo-Controlled Study of Liraglutide 3mg Daily (Saxenda®) in Obese or Overweight Patients With Stable Bipolar Disorder Recruiting NCT03158805 Phase 2 LIRAGLUTIDE
49 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Recruiting NCT02101736 Phase 2 Cabozantinib
50 Phase II Study of Sorafenib (BAY 43-9006) in Patients With Metastatic Medullary Thyroid Carcinoma Active, not recruiting NCT00390325 Phase 2 Sorafenib;Sorafenib Tosylate

Search NIH Clinical Center for Thyroid Carcinoma, Familial Medullary

Genetic Tests for Thyroid Carcinoma, Familial Medullary

Genetic tests related to Thyroid Carcinoma, Familial Medullary:

# Genetic test Affiliating Genes
1 Familial Medullary Thyroid Carcinoma 29 RET
2 Medullary Thyroid Carcinoma 29

Anatomical Context for Thyroid Carcinoma, Familial Medullary

MalaCards organs/tissues related to Thyroid Carcinoma, Familial Medullary:

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

Publications for Thyroid Carcinoma, Familial Medullary

Articles related to Thyroid Carcinoma, Familial Medullary:

(show top 50) (show all 4015)
# Title Authors PMID Year
1
Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma. 6 61 56 54
10443680 1999
2
Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations. 61 6 56
11454140 2001
3
Unilateral renal agenesis in a family with medullary thyroid carcinoma. 56 6 61
10777380 2000
4
Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. 56 6 61
3697657 1986
5
A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. 54 61 6
15240641 2004
6
A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. 61 6 54
14602786 2003
7
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. 61 54 6
10323403 1999
8
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. 54 61 6
9398735 1997
9
Mutation of RET codon 768 is associated with the FMTC phenotype. 61 54 6
9111992 1997
10
RET mutations in exons 13 and 14 of FMTC patients. 6 61 54
7784092 1995
11
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. 61 6 54
7911697 1994
12
A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis. 6 61
24152999 2014
13
Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome. 61 56
16205644 2006
14
Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? 6 61
16118333 2005
15
Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients. 6 61
15741265 2005
16
Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. 61 6
15292360 2004
17
Early malignant progression of hereditary medullary thyroid cancer. 56 61
14561794 2003
18
Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma. 61 56
12679485 2003
19
Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer. 54 6
12694233 2003
20
Analysis of cancer/testis antigens in sporadic medullary thyroid carcinoma: expression and humoral response to NY-ESO-1. 61 56
12574209 2003
21
A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. 61 6
12116277 2002
22
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. 6 61
11932300 2002
23
Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. 6 61
11589684 2001
24
Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes. 61 6
10982477 2000
25
Multiple Endocrine Neoplasia Type 2 61 6
20301434 1999
26
A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. 61 6
10024437 1999
27
A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. 61 6
9506724 1998
28
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. 61 6
8918855 1996
29
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. 61 6
7915165 1994
30
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. 6 61
7907913 1994
31
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. 6 61
8099202 1993
32
Primary localized cutaneous amyloidosis and familial medullary thyroid carcinoma. 56 61
1889128 1991
33
Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. 61 56
1672289 1991
34
Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytoma. 61 56
2572534 1989
35
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
36
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
37
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
38
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
39
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
40
Clinical utility gene card for: multiple endocrine neoplasia type 2. 6
21863057 2012
41
Medullary thyroid cancer: management guidelines of the American Thyroid Association. 6
19469690 2009
42
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. 6
15870131 2005
43
Lessons learned from the management of a rare genetic cancer. 56
14561800 2003
44
Germ-line mutations in nonsyndromic pheochromocytoma. 6
12000816 2002
45
Guidelines for diagnosis and therapy of MEN type 1 and type 2. 6
11739416 2001
46
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. 6
8114940 1994
47
Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. 6
3078962 1988
48
Calcitonin and carcinoembryonic antigen doubling times as prognostic factors in medullary thyroid carcinoma: a structured meta-analysis. 61 54
19563448 2010
49
A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation. 54 61
20119574 2010
50
Medullary thyroid carcinoma cell lines contain a self-renewing CD133+ population that is dependent on ret proto-oncogene activity. 54 61
19897677 2010

Variations for Thyroid Carcinoma, Familial Medullary

ClinVar genetic disease variations for Thyroid Carcinoma, Familial Medullary:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEN1 NM_000244.3(MEN1):c.371_372del (p.Val124fs)deletion Pathogenic 523339 rs1555166368 11:64577210-64577211 11:64809738-64809739
2 RET NM_020975.6(RET):c.1852T>G (p.Cys618Gly)SNV Pathogenic 13905 rs76262710 10:43609096-43609096 10:43113648-43113648
3 RET NM_020975.6(RET):c.1901G>T (p.Cys634Phe)SNV Pathogenic 13911 rs75996173 10:43609949-43609949 10:43114501-43114501
4 RET NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)SNV Pathogenic 13909 rs75996173 10:43609949-43609949 10:43114501-43114501
5 RET NM_020975.6(RET):c.1853G>C (p.Cys618Ser)SNV Pathogenic 13914 rs79781594 10:43609097-43609097 10:43113649-43113649
6 RET NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)SNV Pathogenic 13916 rs77503355 10:43609103-43609103 10:43113655-43113655
7 RET NM_020975.6(RET):c.1900T>C (p.Cys634Arg)SNV Pathogenic 13917 rs75076352 10:43609948-43609948 10:43114500-43114500
8 RET NM_020975.6(RET):c.1902C>G (p.Cys634Trp)SNV Pathogenic 13918 rs77709286 10:43609950-43609950 10:43114502-43114502
9 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
10 RET NM_020975.6(RET):c.1852T>C (p.Cys618Arg)SNV Pathogenic 13929 rs76262710 10:43609096-43609096 10:43113648-43113648
11 RET NM_020975.6(RET):c.1586_1594dup (p.Glu529_Cys531dup)duplication Pathogenic 13941 rs377767434 10:43607601-43607602 10:43112153-43112154
12 RET NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)SNV Pathogenic 13933 rs77939446 10:43609070-43609070 10:43113622-43113622
13 RET NM_020975.6(RET):c.1859G>C (p.Cys620Ser)SNV Pathogenic 13943 rs77503355 10:43609103-43609103 10:43113655-43113655
14 RET NM_020975.6(RET):c.1597G>T (p.Gly533Cys)SNV Pathogenic 13950 rs75873440 10:43607621-43607621 10:43112173-43112173
15 RET NM_020975.6(RET):c.2410G>T (p.Val804Leu)SNV Pathogenic 13946 rs79658334 10:43614996-43614996 10:43119548-43119548
16 RET NM_020975.6(RET):c.2671T>G (p.Ser891Ala)SNV Pathogenic 13951 rs75234356 10:43615592-43615592 10:43120144-43120144
17 RET NM_020975.6(RET):c.1825T>C (p.Cys609Arg)SNV Pathogenic 13944 rs77558292 10:43609069-43609069 10:43113621-43113621
18 RET NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)SNV Pathogenic 24901 rs79781594 10:43609097-43609097 10:43113649-43113649
19 RET NM_020975.6(RET):c.1888T>C (p.Cys630Arg)SNV Pathogenic 24908 rs377767404 10:43609936-43609936 10:43114488-43114488
20 RET NM_020975.6(RET):c.2735G>C (p.Arg912Pro)SNV Pathogenic 24968 rs78347871 10:43617398-43617398 10:43121950-43121950
21 RET NM_020975.6(RET):c.2370G>T (p.Leu790Phe)SNV Pathogenic 38612 rs75030001 10:43613906-43613906 10:43118458-43118458
22 RET NM_020975.6(RET):c.2410G>C (p.Val804Leu)SNV Pathogenic 38613 rs79658334 10:43614996-43614996 10:43119548-43119548
23 KRAS NM_033360.4(KRAS):c.182A>T (p.Gln61Leu)SNV Pathogenic 45116 rs121913240 12:25380276-25380276 12:25227342-25227342
24 RET NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)indel Pathogenic/Likely pathogenic 38629 rs377767429 10:43615568-43615569 10:43120120-43120121
25 RET NM_020975.6(RET):c.2410G>A (p.Val804Met)SNV Pathogenic/Likely pathogenic 37102 rs79658334 10:43614996-43614996 10:43119548-43119548
26 RET NM_020975.6(RET):c.1947G>A (p.Ser649=)SNV Pathogenic/Likely pathogenic 24929 rs377767412 10:43609995-43609995 10:43114547-43114547
27 RET NM_020975.6(RET):c.1996A>G (p.Lys666Glu)SNV Pathogenic/Likely pathogenic 24931 rs143795581 10:43610044-43610044 10:43114596-43114596
28 RET NM_020975.6(RET):c.1998G>T (p.Lys666Asn)SNV Pathogenic/Likely pathogenic 24932 rs146646971 10:43610046-43610046 10:43114598-43114598
29 RET NM_020975.6(RET):c.2370G>C (p.Leu790Phe)SNV Pathogenic/Likely pathogenic 13935 rs75030001 10:43613906-43613906 10:43118458-43118458
30 RET NM_020975.6(RET):c.2304G>C (p.Glu768Asp)SNV Pathogenic/Likely pathogenic 13931 rs78014899 10:43613840-43613840 10:43118392-43118392
31 RET NM_020975.6(RET):c.1892A>G (p.Asp631Gly)SNV Likely pathogenic 24916 rs121913308 10:43609940-43609940 10:43114492-43114492
32 RET NM_020975.6(RET):c.1834_1860del (p.Phe612_Cys620del)deletion Likely pathogenic 376312 rs121913313 10:43609074-43609100 10:43113626-43113652
33 RET NM_020975.6(RET):c.1894_1899del (p.Glu632_Leu633del)deletion Likely pathogenic 376313 rs121913312 10:43609942-43609947 10:43114494-43114499
34 RET NM_020975.6(RET):c.2694_2705del (p.Asp898_Glu901del)deletion Likely pathogenic 376314 rs121913309 10:43615612-43615623 10:43120164-43120175
35 RET NM_020975.6(RET):c.1531G>A (p.Glu511Lys)SNV Conflicting interpretations of pathogenicity 24883 rs201553718 10:43607555-43607555 10:43112107-43112107
36 NTRK1 NM_002529.3(NTRK1):c.865C>A (p.Gln289Lys)SNV Conflicting interpretations of pathogenicity 245652 rs137979116 1:156843439-156843439 1:156873647-156873647
37 NTRK1 NM_002529.3(NTRK1):c.940C>T (p.Arg314Cys)SNV Conflicting interpretations of pathogenicity 245994 rs137994522 1:156843514-156843514 1:156873722-156873722
38 NTRK1 NM_002529.3(NTRK1):c.509T>C (p.Val170Ala)SNV Conflicting interpretations of pathogenicity 292877 rs201503610 1:156837976-156837976 1:156868184-156868184
39 NTRK1 NM_002529.3(NTRK1):c.570C>G (p.Ser190Arg)SNV Conflicting interpretations of pathogenicity 292878 rs138608619 1:156838037-156838037 1:156868245-156868245
40 RET NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)SNV Conflicting interpretations of pathogenicity 13936 rs77724903 10:43613908-43613908 10:43118460-43118460
41 RET NM_020975.6(RET):c.2944C>T (p.Arg982Cys)SNV Conflicting interpretations of pathogenicity 13938 rs17158558 10:43620335-43620335 10:43124887-43124887
42 NTRK1 NM_002529.3(NTRK1):c.1187C>T (p.Ser396Leu)SNV Conflicting interpretations of pathogenicity 456607 rs199646180 1:156844184-156844184 1:156874392-156874392
43 RET NM_020975.6(RET):c.2945G>A (p.Arg982His)SNV Conflicting interpretations of pathogenicity 477359 rs368550200 10:43620336-43620336 10:43124888-43124888
44 NTRK1 NM_002529.3(NTRK1):c.1480C>A (p.Pro494Thr)SNV Uncertain significance 456610 rs764737760 1:156845437-156845437 1:156875645-156875645
45 RET NM_020975.6(RET):c.1151C>G (p.Pro384Arg)SNV Uncertain significance 405529 rs771679592 10:43604566-43604566 10:43109118-43109118
46 RET NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)SNV Uncertain significance 405534 rs752322996 10:43606839-43606839 10:43111391-43111391
47 RET NM_020975.6(RET):c.2527G>A (p.Glu843Lys)SNV Uncertain significance 405527 rs755837568 10:43615113-43615113 10:43119665-43119665
48 NTRK1 NM_002529.3(NTRK1):c.2222C>T (p.Thr741Met)SNV Uncertain significance 452208 rs145081333 1:156851265-156851265 1:156881473-156881473
49 RET NM_020975.6(RET):c.938G>A (p.Arg313Gln)SNV Uncertain significance 13932 rs77702891 10:43601894-43601894 10:43106446-43106446
50 RET NM_020975.6(RET):c.433G>A (p.Val145Ile)SNV Uncertain significance 573409 rs1311922451 10:43597885-43597885 10:43102437-43102437

UniProtKB/Swiss-Prot genetic disease variations for Thyroid Carcinoma, Familial Medullary:

73 (show all 30)
# Symbol AA change Variation ID SNP ID
1 RET p.Cys609Tyr VAR_006306 rs77939446
2 RET p.Cys611Trp VAR_006308 rs80069458
3 RET p.Cys618Arg VAR_006311 rs76262710
4 RET p.Cys618Phe VAR_006312 rs79781594
5 RET p.Cys618Ser VAR_006313 rs79781594
6 RET p.Cys618Tyr VAR_006314 rs79781594
7 RET p.Cys620Gly VAR_006315 rs77316810
8 RET p.Cys620Arg VAR_006316 rs77316810
9 RET p.Cys620Ser VAR_006317 rs77503355
10 RET p.Cys620Phe VAR_006318 rs77503355
11 RET p.Cys630Phe VAR_006320 rs377767405
12 RET p.Cys634Tyr VAR_006325 rs75996173
13 RET p.Cys634Arg VAR_006326 rs75076352
14 RET p.Cys634Ser VAR_006327 rs75076352
15 RET p.Cys634Trp VAR_006328 rs77709286
16 RET p.Glu768Asp VAR_006335 rs78014899
17 RET p.Val804Leu VAR_006336 rs79658334
18 RET p.Val804Met VAR_006337 rs79658334
19 RET p.Met918Thr VAR_006342 rs74799832
20 RET p.Thr946Met VAR_006345
21 RET p.Cys611Gly VAR_009472 rs377767391
22 RET p.Cys630Ser VAR_009477 rs377767405
23 RET p.Cys630Tyr VAR_009478 rs377767405
24 RET p.Leu790Phe VAR_009482 rs75030001
25 RET p.Tyr791Phe VAR_009483 rs77724903
26 RET p.Ser891Ala VAR_009486 rs75234356
27 RET p.Arg844Leu VAR_011582 rs55947360
28 RET p.Ala639Gly VAR_012743
29 RET p.Ala641Gly VAR_012744
30 RET p.Ser922Phe VAR_012745 rs377767432

Copy number variations for Thyroid Carcinoma, Familial Medullary from CNVD:

7 (show all 35)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32028 1 32695245 32893524 Copy number Medullary thyroid carcinoma
2 32757 1 39124587 39304462 Copy number Medullary thyroid carcinoma
3 35269 1 61892291 62734672 Copy number Medullary thyroid carcinoma
4 37273 1 8867740 10433514 Copy number Medullary thyroid carcinoma
5 50547 11 118321536 118342357 Copy number Medullary thyroid carcinoma
6 72206 12 7696275 8062485 Copy number Medullary thyroid carcinoma
7 75351 13 19254966 19420048 Copy number Medullary thyroid carcinoma
8 84518 14 30525697 30878740 Copy number Medullary thyroid carcinoma
9 94252 15 64420772 64430751 Copy number Medullary thyroid carcinoma
10 98948 16 21925400 21925459 Copy number Medullary thyroid carcinoma
11 109449 17 26108458 26265366 Copy number Medullary thyroid carcinoma
12 110763 17 34217158 34217217 Copy number Medullary thyroid carcinoma
13 120216 18 22018316 22032151 Copy number Medullary thyroid carcinoma
14 126958 19 226925 19692685 Copy number Medullary thyroid carcinoma
15 157094 21 10117898 10144936 Copy number Medullary thyroid carcinoma
16 157510 21 17667404 17854835 Copy number Medullary thyroid carcinoma
17 158515 21 33658674 33833374 Copy number Medullary thyroid carcinoma
18 159066 21 39553689 39729222 Copy number Medullary thyroid carcinoma
19 162875 22 22731196 30657843 Copy number Medullary thyroid carcinoma
20 164568 22 37696964 37715431 Copy number Medullary thyroid carcinoma
21 164574 22 37718669 41848706 Copy number Medullary thyroid carcinoma
22 172669 3 185265380 185329933 Copy number Medullary thyroid carcinoma
23 176173 3 47018884 50073930 Copy number Medullary thyroid carcinoma
24 187975 4 56874636 57555635 Copy number Medullary thyroid carcinoma
25 193680 5 132290783 132440481 Copy number Medullary thyroid carcinoma
26 200565 5 56437065 56573822 Copy number Medullary thyroid carcinoma
27 201422 5 68868713 70422356 Copy number Medullary thyroid carcinoma
28 201578 5 70622715 70698853 Copy number Medullary thyroid carcinoma
29 215281 6 74180226 74456183 Copy number Medullary thyroid carcinoma
30 222366 7 151686560 152069929 Copy number Medullary thyroid carcinoma
31 226221 7 55695924 57405095 Copy number Medullary thyroid carcinoma
32 227764 7 71887076 75407752 Copy number Medullary thyroid carcinoma
33 245564 9 109184070 109357673 Copy number Medullary thyroid carcinoma
34 249823 9 18983768 19243114 Copy number Medullary thyroid carcinoma
35 254446 9 6610160 6848238 Copy number Medullary thyroid carcinoma

Expression for Thyroid Carcinoma, Familial Medullary

Search GEO for disease gene expression data for Thyroid Carcinoma, Familial Medullary.

Pathways for Thyroid Carcinoma, Familial Medullary

Pathways related to Thyroid Carcinoma, Familial Medullary according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1 12.52 VHL RET RAF1 NTRK1 KRAS ESR2
2 12.34 RET PRKAR1A NTRK1 NKX2-1 CALCA
3
Show member pathways
11.78 RET RAF1 KRAS GFRA1 GDNF
4 11.65 RAF1 KRAS ESR2
5
Show member pathways
11.57 RET RAF1 KRAS
6 11.56 SST RET PRKAR1A ESR2 ASCL1
7 11.44 RAF1 KRAS ESR2
8 11.4 RET RAF1 NTRK1 KRAS
9 11.29 RET RAF1 KRAS
10 11.12 RET GFRA1 GDNF
11 9.4 RET RAF1 GFRA1 GDNF

GO Terms for Thyroid Carcinoma, Familial Medullary

Cellular components related to Thyroid Carcinoma, Familial Medullary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.02 SST RET NTRK1 CALCA ASCL1

Biological processes related to Thyroid Carcinoma, Familial Medullary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.88 RET NTRK1 GFRA1 GDNF ASCL1
2 negative regulation of cell proliferation GO:0008285 9.8 VHL SST RAF1 NTRK1 MEN1
3 negative regulation of apoptotic process GO:0043066 9.8 VHL RAF1 NTRK1 GDNF CEACAM5 ASCL1
4 axon guidance GO:0007411 9.55 RET NTRK1 NKX2-1 GFRA1 GDNF
5 forebrain neuron differentiation GO:0021879 9.46 NKX2-1 ASCL1
6 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.43 RET GFRA1
7 thyroid gland development GO:0030878 9.43 TG RAF1 NKX2-1
8 cerebral cortex GABAergic interneuron differentiation GO:0021892 9.37 NKX2-1 ASCL1
9 sympathetic nervous system development GO:0048485 9.13 NTRK1 GDNF ASCL1
10 MAPK cascade GO:0000165 9.1 RET RAF1 MEN1 KRAS GFRA1 GDNF

Molecular functions related to Thyroid Carcinoma, Familial Medullary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 TG RAF1 NTRK1 ESR2 CEACAM5 CALCA
2 hormone activity GO:0005179 8.92 TG SST GAST CALCA

Sources for Thyroid Carcinoma, Familial Medullary

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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