ESCR
MCID: ESP021
MIFTS: 84

Esophageal Cancer (ESCR)

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

Aliases & Classifications for Esophageal Cancer

MalaCards integrated aliases for Esophageal Cancer:

Name: Esophageal Cancer 57 12 20 72 36 13 6 42 15 37
Esophageal Carcinoma 12 58 54 15 17 70
Esophageal Squamous Cell Carcinoma 58 72 6 17
Carcinoma of Esophagus 12 58 29 6
Esophageal Squamous Cell Carcinoma, Somatic 57 6
Esophageal Carcinoma, Somatic 57 6
Gastric Cardia Adenocarcinoma 72 70
Esophageal Neoplasms 44 70
Esophagus Cancer 12 20
Escc 58 72
Malignant Tumor of the Middle Third of the Esophagus 12
Malignant Neoplasm of Proximal Third of Esophagus 12
Malignant Neoplasm of Middle Third of Oesophagus 12
Malignant Neoplasm of Distal Third of Esophagus 12
Malignant Neoplasm of Lower Third of Oesophagus 12
Malignant Neoplasm of Middle Third of Esophagus 70
Malignant Tumor of Proximal Third of Esophagus 12
Malignant Tumor of Distal Third of Esophagus 12
Malignant Neoplasm of Upper Third Esophagus 12
Squamous Cell Carcinoma of the Esophagus 58
Malignant Tumor of Abdominal Esophagus 12
Squamous Cell Carcinoma of Esophagus 70
Esophageal Epidermoid Carcinoma 58
Squamous Cell Esophageal Cancer 54
Malignant Neoplasm of Esophagus 70
Esophageal Cancer, Somatic 57
Ca Middle Third Oesophagus 12
Aerodigestive Tract Cancer 72
Ca Lower Third Oesophagus 12
Carcinoma of Oesophagus 12
Cancer of Oesophagus 12
Cancer of Esophagus 12
Cancer, Esophageal 39
Escr 72

Characteristics:

Orphanet epidemiological data:

58
carcinoma of esophagus
Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Europe),1-5/10000 (Europe),1-9/100000 (United States),1-9/100000 (France),1-9/100000 (India),1-5/10000 (China),1-9/100000 (Africa); Age of onset: Adult;
squamous cell carcinoma of the esophagus
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Adult; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mutation
autosomal dominant


HPO:

31
esophageal cancer:
Inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:1107 DOID:5041
OMIM® 57 133239
KEGG 36 H00017
MeSH 44 D004938
ICD10 via Orphanet 33 C15.0 C15.1 C15.3 more
UMLS via Orphanet 71 C0014859 C0152018 C0279626 more
UMLS 70 C0014859 C0152018 C0153413 more

Summaries for Esophageal Cancer

GARD : 20 Esophageal cancer is a cancer of the esophagus, the hollow tube that carries foods and liquids from the throat to the stomach. Symptoms that may develop as the cancer grows include heartburn, pain when swallowing, difficulty swallowing, a hoarse voice, a cough that does not go away, weight loss, and coughing up blood. The exact cause of esophageal cancer usually is not known, but both environmental and genetic factors are thought to play a role in its development. For example, variations or mutations in any of several genes may cause susceptibility to esophageal cancer. Environmental factors that may increase a person's chance to develop esophageal cancer include tobacco use, heavy alcohol use, older age, obesity, and damage to the esophagus from acid reflux ( Barrett esophagus ). The diagnosis may be based on imaging studies and tests such as chest X-ray, upper endoscopy, and a biopsy of tissue from the esophagus. Treatment options and the chance of recovery depend on the stage of the cancer, whether it can be surgically removed, and a person's general health. Treatment options may include surgery, radiation therapy, chemotherapy, laser therapy, and electrocoagulation. Other treatment options, such as targeted therapy, are being studied in clinical trials. When it is found very early, there is a better chance of recovery. When the cancer is more advanced, it can be treated but rarely can be cured.

MalaCards based summary : Esophageal Cancer, also known as esophageal carcinoma, is related to squamous cell carcinoma and esophageal disease, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Esophageal Cancer is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are MicroRNAs in cancer and TGF-beta Signaling Pathway (WikiPathways). The drugs Fentanyl and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include esophagus, lymph node and lung, and related phenotypes are dysphagia and feeding difficulties in infancy

Disease Ontology : 12 A gastrointestinal system cancer that is located in the esophagus.

OMIM® : 57 Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). (133239) (Updated 05-Apr-2021)

MedlinePlus : 42 The esophagus is a hollow tube that carries food and liquids from your throat to your stomach. Early esophageal cancer usually does not cause symptoms. Later, you may have symptoms such as Painful or difficult swallowing Weight loss A hoarse voice or cough that doesn't go away You're at greater risk for getting esophageal cancer if you smoke, drink heavily, or have acid reflux. Your risk also goes up as you age Your doctor uses imaging tests and a biopsy to diagnose esophageal cancer. Treatments include surgery, radiation, and chemotherapy. You might also need nutritional support, since the cancer or treatment may make it hard to swallow. NIH: National Cancer Institute

KEGG : 36 Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ECSC) and adenocarcinoma (EAC). ECSC is the most frequent histological subtype in esophageal cancer, although the incidence of EAC is increasing faster than any other malignancy in the western world. Whereas ESCC can be attributed to alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others.

UniProtKB/Swiss-Prot : 72 Esophageal cancer: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage.

Wikipedia : 73 Esophageal cancer is cancer arising from the esophagus—the food pipe that runs between the throat and... more...

Related Diseases for Esophageal Cancer

Diseases related to Esophageal Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 830)
# Related Disease Score Top Affiliating Genes
1 squamous cell carcinoma 32.9 WWOX TP53 TGFBR2 RNF6 LZTS1 HOTAIR
2 esophageal disease 31.9 TP53 MIR34A MIR21 MIR126
3 gastric cancer 31.9 ZEB2 TP53 TGFBR2 MIR34A MIR21 MIR148A
4 lung cancer 31.5 ZEB1 TP53 TGFBR2 MIR373 MIR34A MIR30E
5 squamous cell carcinoma, head and neck 31.4 TP53 TGFBR2 MIR373 MIR30E MIR21 MIR148A
6 lymphatic system disease 31.3 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
7 oral squamous cell carcinoma 31.3 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
8 pancreas disease 31.3 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
9 leukemia, acute myeloid 31.3 TP53 MIR34A MIR30E MIR21 MIR126 HOTAIR
10 ovarian cancer 31.2 ZEB2 ZEB1 WWOX TP53 TGFBR2 MIR34A
11 connective tissue disease 31.2 TP53 TGFBR2 MIR34A MIR30E MIR21 MIR126
12 thoracic cancer 31.2 MIR373 MIR34A MIR30E MIR21 MIR126
13 hepatocellular carcinoma 31.2 ZEB2 ZEB1 TP53 TGFBR2 MIR34A MIR30E
14 lymphoma, non-hodgkin, familial 31.2 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
15 nasopharyngeal carcinoma 31.2 TP53 TGFBR2 MIR30E MIR21 HOTAIR CASC9
16 laryngeal squamous cell carcinoma 31.1 TP53 MIR34A MIR21 MIR148A HOTAIR
17 lung cancer susceptibility 3 31.1 TP53 TGFBR2 MIR21 MIR126 HOTAIR
18 pancreatic cancer 31.1 ZEB1 TP53 TGFBR2 MIR373 MIR34A MIR21
19 hematologic cancer 31.1 MIR34A MIR21 MIR148A MIR126 MIR106A
20 gastrointestinal system cancer 31.0 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
21 bladder cancer 31.0 TP53 MIR34A MIR30E MIR21 MIR126 LZTS1
22 dermatomyositis 31.0 MIR34A MIR21 MIR148A
23 pancreatic ductal adenocarcinoma 31.0 TP53 MIR21 MIR148A HOTAIR
24 cholangiocarcinoma 31.0 TP53 MIR373 MIR21 MIR148A
25 peripheral nervous system disease 31.0 TP53 MIR34A MIR21 MIR126
26 kidney cancer 30.9 TP53 MIR21 MIR126 MIR106A HOTAIR
27 renal cell carcinoma, nonpapillary 30.9 ZEB2 TP53 MIR34A MIR30E MIR21 MIR126
28 gastrointestinal system disease 30.9 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
29 arteries, anomalies of 30.9 MIR34A MIR30E MIR21 MIR126
30 leukemia, chronic lymphocytic 30.8 TP53 MIR373 MIR34A MIR30E MIR21 MIR16-2
31 nervous system cancer 30.8 TP53 MIR373 MIR34A MIR30E MIR21 MIR126
32 glioma 30.8 TP53 MIR34A MIR21 HOTAIR
33 pharynx cancer 30.8 TP53 MIR373 MIR30E MIR21 MIR126
34 intestinal disease 30.7 TP53 MIR34A MIR30E MIR21 MIR148A MIR126
35 cervical cancer 30.7 TP53 MIR34A MIR21 MIR126 HOTAIR
36 larynx cancer 30.7 TP53 MIR34A MIR21 MIR148A
37 papillary adenocarcinoma 30.6 TP53 MIR30E MIR21
38 glioma susceptibility 1 30.6 TP53 MIR21 MIR106A
39 diffuse large b-cell lymphoma 30.6 TP53 MIR21 MIR126 MIR106A HOTAIR
40 non-alcoholic steatohepatitis 30.6 TP53 MIR34A MIR21
41 small cell cancer of the lung 30.5 TP53 MIR21 HOTAIR
42 aortic disease 30.5 TGFBR2 MIR21 MIR126
43 bone inflammation disease 30.4 MIR34A MIR21 MIR126
44 tylosis with esophageal cancer 11.9
45 adenocarcinoma 11.2
46 mucoepidermoid esophageal carcinoma 11.2
47 esophagus verrucous carcinoma 11.1
48 esophageal basaloid squamous cell carcinoma 11.1
49 dysphagia 11.1
50 undifferentiated carcinoma of esophagus 11.0

Comorbidity relations with Esophageal Cancer via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Deficiency Anemia
Esophageal Disease Esophagitis
Familial Atrial Fibrillation Heart Disease
Neutropenia Protein-Energy Malnutrition
Swallowing Disorders

Graphical network of the top 20 diseases related to Esophageal Cancer:



Diseases related to Esophageal Cancer

Symptoms & Phenotypes for Esophageal Cancer

Human phenotypes related to Esophageal Cancer:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
4 clinodactyly of the 5th toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001864
5 esophageal carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011459
6 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
7 recurrent singultus 58 31 frequent (33%) Frequent (79-30%) HP:0100247
8 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
9 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001608
10 cough 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0012735
11 abnormality of the neck 58 31 frequent (33%) Frequent (79-30%) HP:0000464
12 chest pain 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100749
13 lymphadenopathy 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002716
14 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
15 abnormal intestine morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002242
16 barrett esophagus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100580
17 esophageal neoplasm 58 Very frequent (99-80%)
18 squamous cell carcinoma 31 HP:0002860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
esophageal cancer
esophageal squamous cell carcinoma

Clinical features from OMIM®:

133239 (Updated 05-Apr-2021)

UMLS symptoms related to Esophageal Cancer:


nausea and vomiting; constipation; abdominal pain; diarrhea; tinnitus; snoring; dyspepsia; sore throat; icterus; coughing; vertigo/dizziness; equilibration disorder; heartburn; gastrointestinal gas

GenomeRNAi Phenotypes related to Esophageal Cancer according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.58 ZEB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.58 WWOX
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.58 ZEB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.58 CRNN
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-129 9.58 WWOX
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 ZEB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.58 ZEB2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.58 CRNN
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 9.58 CRNN ZEB2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.58 CRNN
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.58 WWOX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.58 CRNN
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.58 CRNN
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.58 CRNN
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.58 ZEB2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.58 WWOX
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.58 ZEB2

MGI Mouse Phenotypes related to Esophageal Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.43 DCC LZTS1 TGFBR2 TP53 WWOX ZEB1
2 pigmentation MP:0001186 9.02 DCC TGFBR2 TP53 ZEB1 ZEB2

Drugs & Therapeutics for Esophageal Cancer

Drugs for Esophageal Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 451)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Pravastatin Approved Phase 4 81093-37-0 54687
4
Iron Approved Phase 4 7439-89-6 23925 29936
5
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
6
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
7
Nicotine Approved Phase 4 54-11-5 942 89594
8
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
9
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
10
Phenylephrine Approved Phase 4 59-42-7 6041
11
Dobutamine Approved Phase 4 34368-04-2 36811
12
Norepinephrine Approved Phase 4 51-41-2 439260
13
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
14
Docetaxel Approved, Investigational Phase 4 114977-28-5 148124
15
Nedaplatin Approved, Investigational Phase 4 95734-82-0
16 Lipid Regulating Agents Phase 4
17 Hypolipidemic Agents Phase 4
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
19 Anticholesteremic Agents Phase 4
20 Central Nervous System Stimulants Phase 4
21 Nicotinic Agonists Phase 4
22 Dopamine Agents Phase 4
23 Dopamine Uptake Inhibitors Phase 4
24 Anesthetics Phase 4
25 Omega 3 Fatty Acid Phase 4
26 Vasoconstrictor Agents Phase 4
27 Folfirinox Phase 4
28
Menthol Approved Phase 3 2216-51-5 16666
29
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
30
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
31
Ethanol Approved Phase 3 64-17-5 702
32
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
33
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
34
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
35
tannic acid Approved Phase 3 1401-55-4
36
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
37
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
38
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
39
Dezocine Approved, Investigational Phase 3 53648-55-8 40841 3033053
40
Sufentanil Approved, Investigational Phase 3 56030-54-7 41693
41
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
42
Zanubrutinib Approved, Investigational Phase 3 1691249-45-2
43
Fluorouracil Approved Phase 3 51-21-8 3385
44
Epirubicin Approved Phase 3 56420-45-2 41867
45
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 5310940 9887054 43805 6857599
46
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
47
leucovorin Approved Phase 3 58-05-9 6006
48
Capecitabine Approved, Investigational Phase 2, Phase 3 154361-50-9 60953
49
ramucirumab Approved, Investigational Phase 3 947687-13-0
50
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743

Interventional clinical trials:

(show top 50) (show all 1370)
# Name Status NCT ID Phase Drugs
1 A Double-Blind, Placebo-Controlled, Randomized Clinical Trial of Sodium Glycididazole in Concurrent Radiochemotherapy for the Treatment of Thoracic Esophageal Squamous Carcinoma Unknown status NCT00642239 Phase 4 placebo;Sodium Glycididazole
2 Randomized Controlled Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer Unknown status NCT01038154 Phase 4 Pravastatin
3 Randomized Double Blinded Trial to Investigate Effects of an Enteral Nutritional Supplement Enriched With Eicosapentaenoic Acid on Body Composition,Complications,Stress Response,Immune Function & Quality of Life in After Esophagectomy Unknown status NCT00790140 Phase 4
4 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
5 Clinical and Medico-economic Evaluation of Radiofrequency Ablation Versus Oesophagectomy in the Treatment of High Grade Dysplasia in Barrett's Oesophagus Unknown status NCT02558504 Phase 4
6 Intrathoracic Esophagogastric Anastomosis After Robot Assisted Minimally Invasive Esophagectomy Using STRATAFIX Unknown status NCT02609425 Phase 4
7 Postoperative Pain Management After Minimally Invasive Esophagectomy Unknown status NCT02042313 Phase 4
8 An Pilot Study to Assess the Efficacy of Intravenous Iron Isomaltoside 1000 (Monofer®) in the Management of Anaemia Associated With the Palliative Management of Oesophagogastric Adenocarcinoma Unknown status NCT01927328 Phase 4 Iron isomaltoside 1000
9 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
10 Effect of Enteral Immunonutrition During Chemoradiotherapy in Patients With Head and Neck Cancer or Esophageal Cancer Completed NCT00333099 Phase 4
11 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
12 Multicenter Comparative of Toxicity and Effectiveness of Lobaplation or Cisplatin Based Adjuvant Chemotherapy in Esophageal Carcinoma Completed NCT03413436 Phase 4 Lobaplatin;Cisplatin
13 A Perspective Random Trial of Sodium Glycididazole Combined With Definitive Concurrent Chemoradiotherapy for Locally Advanced Squamous Cell Esophageal Carcinoma Completed NCT02721563 Phase 4 Sodium Glycididazole;Placebo
14 Study of Predictive Proteomic Factors of the Response to Exclusive Concomitant Radiochemotherapy in Oesophageal Cancer Completed NCT00911092 Phase 4 Chemotherapy (Fluorouracil and Cisplatin)
15 Randomised Trial of the Effects of Individual Nutritional Counseling in Cancer Patients Completed NCT01962272 Phase 4
16 Perioperative Goal Directed Fluid Therapy During Esophageal Resection A Prospective Randomized Controlled Open Multi-centre Trial to Study the Effect on Postoperative Complications Completed NCT01416077 Phase 4
17 A STUDY OF CRYOSPRAY ABLATIONTM USING SURGICAL RESECTION SPECIMENS TO DETERMINE TREATMENT EFFECT, DEPTH OF INJURY, AND SIDE EFFECTS IN THE ESOPHAGUS (CSA Depth 3) Completed NCT00754468 Phase 4
18 Effects of Preoperative Enteral Immunonutrition for Esophageal Cancer Patients Given Neoadjuvant Chemoradiotherapy Recruiting NCT04513418 Phase 4
19 A Clinical Study of Endostar Combined With TP Regimen for Chemoradiotherapy in Esophageal Cancer Recruiting NCT04164797 Phase 4 endostar+chemoradiotherapy
20 PERIOP-FOLFIRINOX: A Pilot Trial of Perioperative Genotype-guided Irinotecan Dosing of gFOLFIRINOX for Locally Advanced Gastroesophageal Adenocarcinoma Recruiting NCT02366819 Phase 4 Oxaliplatin;Leucovorin Calcium;Irinotecan Hydrochloride;Fluorouracil
21 A Perspective Trial of Sodium Glycididazole Combined With Preoperatie Concurrent Chemoradiotherapy for Locally Advanced Squamous Cell Esophageal Carcinoma Terminated NCT02721550 Phase 4 Sodium Glycididazole
22 A Perspective Trial of Sodium Glycididazole Combined With Concurrent Chemoradiotherapy for Locally Recurrent Squamous Cell Esophageal Carcinoma Terminated NCT02721576 Phase 4 Sodium Glycididazole
23 A PROSPECTIVE RANDOMISED NON SURGICAL TREATMENT OF OESOPHAGEAL CANCER WITH COMBINED CHEMOTHERAPY AND EXTERNAL BEAM IRRADIATION WITH VS WITHOUT HIGH-DOSE BRACHYTHERAPY Unknown status NCT00002884 Phase 3 chemotherapy;cisplatin;fluorouracil
24 A Randomised Phase II/III Multi-Centre Clinical Trial of Definitive Chemotherapy, With or Without Cetuximab, in Carcinoma of the Oesophagus Unknown status NCT00509561 Phase 2, Phase 3 capecitabine;cisplatin
25 Traditional Three Incisions vs Minimally Invasive Thoracol-laparoscopic Esophagectomy for Esophageal Cancer: a Multi-center, Randomized, and Open-label Trial Unknown status NCT02355249 Phase 3
26 A Phase Ⅲ Study of Respiratory Complications Associated With Esophagectomy Through Either Ivor-Lewis or Sweet Approach for the Treatment of Middle or Lower Third Intrathoracic Esophageal Carcinoma Unknown status NCT01053182 Phase 3
27 A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett's Metaplasia Unknown status NCT00357682 Phase 3 Esomeprazole;Esomeprazole;Aspirin
28 Self-Expandable Esophageal Radiation Stent:a Multicentric Randomized Controlled Trial in Patients With Advanced Esophageal Cancer Unknown status NCT01054274 Phase 3
29 Low-dose Aspirin Therapy for Stage II-III Esophageal Cancer- A Multi-Center, Open Label, Randomized Controlled Phase III Trial Unknown status NCT02326779 Phase 3 Acetylsalicylic acid
30 A Multicenter, Randomized, Open-label, Phase III Trail of Adjuvant Chemoradiotherapy Versus Adjuvant Radiotherapy in Patients Undergoing Radical Esophagectomy for Pathologic Lymph Node Positive Esophageal Squamous Cell Carcinoma Unknown status NCT02570893 Phase 3 Paclitaxel and carboplatin
31 Irinotecan Plus S1 Versus S1 in Patients With Previously Treated Advanced Esophageal Squamous Cell Carcinoma (ESWN 01 Trial): a Phase 3, Prospective,Multicenter, Randomised Study Unknown status NCT02319187 Phase 3 S1;S-1;irinotecan
32 Multi-center Prospective Randomized Controlled Clinical Trial of Postoperative Adjuvant Chemotherapy, Adjuvant Radiotherapy, or Surgery Alone for High-risk Histological Node Negative Patients With Thoracic Esophageal Squamous Cell Carcinoma Unknown status NCT02891083 Phase 3 Adjuvant chemotherapy (Paclitaxel and Cisplatin)
33 Two-arm Phase III Trial Comparing Radiotherapy With Differentcycles of Cisplatin-5-fluorouracil for Esophageal Cancer Unknown status NCT02607540 Phase 3
34 Different Cycles of Capecitabine Usage in Esophageal Cancer Concurrent Chemoradiotherapy Unknown status NCT02603159 Phase 3 Capecitabine(Aibin)
35 Two Cycles Versus Four Cycles of Capecitabine Combined Oxaliplatin Concurrent Radiotherapy as First-line Therapy for Chinese Locally Advanced Esophageal Squamous Cell Carcinomas, an Open Randomised Phase III Cilinical Trial Unknown status NCT02604615 Phase 3 Capecitabine(Aibin);Oxaliplatin(Aiheng)
36 Concurrent Chemoradiotherapy Containing Paclitaxel and Cisplatin With/Without Tarceva in Locally Advanced Esophageal Carcinoma: a Randomized Phase III Multi-center Trial. Unknown status NCT00686114 Phase 3 Paclitaxel;Cisplatin;Tarceva
37 An Exploratory Clinical Study of Apatinib for the 2nd Treatment of Esophageal Cancer or Esophageal and Gastric Unknown status NCT03285906 Phase 2, Phase 3 Apatinib
38 Two-arm Phase III Trial Comparing Different Time of Endoscopic Photodynamic Therapy on Esophageal and/or Gastric Cardiac Cancer Unknown status NCT02628665 Phase 3 photosensitizer(photofrin)
39 Three Field Radical Esophagectomy Versus Two Field Esophagectomy - a Prospective Trial Unknown status NCT00193817 Phase 3
40 Is Elective Nodal Irradiation (ENI) Necessary For Patients With Thoracic Esophageal Squamous Cell Carcinoma Who Undergo Esophagectomy And With Pathological Stage Of T1-2,N+,M0 -- A Randomized Phase Ⅲ Trial Unknown status NCT01398449 Phase 3
41 A Randomized Phase II Trial Evaluating The Addition Of Nimotuzumab To Chemoradiation For Patients With Esophageal Squamous Cell Carcinoma After Radical Esophagectomy Who Suffer With Lymph Nodes Recurrence Unknown status NCT01402180 Phase 2, Phase 3 chemotherapy;chemotherapy
42 An Open, Multicenter, Randomized Phase III Clinical Study on Cisplatin Combined With S-1 or Paclitaxel as First-line Treatment for Metastatic Esophageal Squamous Cell Carcinoma Unknown status NCT02677597 Phase 3 Cisplatin Combined With S-1;Cisplatin Combined With Paclitaxel
43 An Prospective, Multicenter, Double-blind, Randomized, Controlled Clinical Study of Nimotuzumab Combined With Paclitaxel and Cisplatin as First-line Treatment of Metastatic Esophageal Squamous Cell Carcinomas Unknown status NCT02611700 Phase 3 Nimotuzumab;Paclitaxel;Cisplatin;Placebo
44 Chemoprevention of Esophageal Squamous Cell Carcinoma With Aspirin and Tea Polyphenols: a Randomized Controlled Trial. Unknown status NCT01496521 Phase 3 Aspirin
45 A Phase III, Multicenter Randomized Controlled Study of Neo-adjuvant Chemoradiotherapy Followed by Surgery Versus Surgery for Locally Advanced Squamous Cell Esophageal Carcinoma Unknown status NCT01216527 Phase 3
46 Phase 3 Study of Lobaplatin,5-Fluorouracil and Leucovorin for the Treatment of Recurrent or Metastatic Esophageal Carcinoma Unknown status NCT01034683 Phase 3 lobaplatin , 5-FU ,leucovorin
47 A Prospective, Randomised Phase 3 Study of High-dose Versus Standard-dose Radiation of Inoperable Esophageal Carcinoma Treated With Concurrent Chemoradiation Unknown status NCT01937208 Phase 3 concurrent chemotherapy with radiation
48 Docetaxel Plus Cisplatin Versus 5-fluorouracil Plus Cisplatin as First-line Treatment for Metastatic Esophageal Squamous Patients: a Prospective Multicenter, Randomized Controlled Clinical Study Unknown status NCT03002064 Phase 3 Docetaxel;Fluorouracil;Cisplatin
49 A Prospective Randomized Trial Comparing Standard Chemotherapy Followed By Resection Versus Infusional Chemotherapy In Patients With Resectable Adenocarcinoma Of The Oesophagus Unknown status NCT00041262 Phase 3 cisplatin;epirubicin hydrochloride;fluorouracil
50 Efficacy of Nasogastric Tube Application in Postoperative Care of Esophagectomy: a Randomized Clinical Trial Unknown status NCT03273686 Phase 3

Search NIH Clinical Center for Esophageal Cancer

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Carboplatin
Cisplatin
CISPLATIN PWDR
Methotrexate
Methotrexate Sodium
PROFIMER SODIUM

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Esophageal Cancer cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Esophageal Cancer:
Tumor infiltrating lymphocytes (TILs) for solid tumors
Embryonic/Adult Cultured Cells Related to Esophageal Cancer:
Tumor infiltrating lymphocytes PMIDs: 24329789 19342963 21498393 22996367 19304471 22555974 15800326 23650429 21325070 8170938 12242449 24218514 23904171

Cochrane evidence based reviews: esophageal neoplasms

Genetic Tests for Esophageal Cancer

Genetic tests related to Esophageal Cancer:

# Genetic test Affiliating Genes
1 Carcinoma of Esophagus 29

Anatomical Context for Esophageal Cancer

The Foundational Model of Anatomy Ontology organs/tissues related to Esophageal Cancer:

19
Esophagus

MalaCards organs/tissues related to Esophageal Cancer:

40
Lymph Node, Lung, Liver, Colon, Bone, Endothelial, Brain

Publications for Esophageal Cancer

Articles related to Esophageal Cancer:

(show top 50) (show all 24170)
# Title Authors PMID Year
1
Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma. 57 6
12154016 2002
2
Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma. 6 57
11956080 2002
3
The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. 6 57
10097140 1999
4
Identification of a tumor suppressive critical region mapping to 3p14.2 in esophageal squamous cell carcinoma and studies of a candidate tumor suppressor gene, ADAMTS9. 61 57
16799631 2007
5
Gefitinib-sensitizing mutations in esophageal carcinoma. 61 6
16707764 2006
6
An LOH and mutational investigation of the ST7 gene locus in human esophageal carcinoma. 57 61
12545169 2003
7
Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. 61 57
11078757 2000
8
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. 57 61
10841811 2000
9
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 54 6
10789724 2000
10
Identification of novel regions of allelic loss from a genomewide scan of esophageal squamous-cell carcinoma in a high-risk Chinese population. 57 61
10679910 2000
11
Frequent loss of heterozygosity at the retinoblastoma locus in human esophageal cancers. 61 57
1913694 1991
12
Effects of probiotics on gastrointestinal complications and nutritional status of postoperative patients with esophageal cancer: A protocol of randomized controlled trial. 61 42
33725995 2021
13
Identification of prognostic miRNA biomarkers for esophageal cancer based on The Cancer Genome Atlas and Gene Expression Omnibus. 42 61
33607850 2021
14
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer. 6
30816478 2019
15
Integrated genomic characterization of oesophageal carcinoma. 57
28052061 2017
16
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 6
26619011 2016
17
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 6
25157968 2014
18
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 57
22960999 2012
19
MiRNAs and their association with locoregional staging and survival following surgery for esophageal carcinoma. 47 61
20628822 2011
20
Prognostic significance of differentially expressed miRNAs in esophageal cancer. 61 47
20309880 2011
21
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 57
20729852 2010
22
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. 57
20729853 2010
23
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 57
19801978 2009
24
MicroRNA expression in squamous cell carcinoma and adenocarcinoma of the esophagus: associations with survival. 61 47
19789312 2009
25
MicroRNA-373 (miR-373) post-transcriptionally regulates large tumor suppressor, homolog 2 (LATS2) and stimulates proliferation in human esophageal cancer. 47 61
19501585 2009
26
Gene deletion of inositol hexakisphosphate kinase 2 predisposes to aerodigestive tract carcinoma. 57
19430495 2009
27
Multiple roles for Sox2 in the developing and adult mouse trachea. 57
19403656 2009
28
MicroRNA expression profiles of esophageal cancer. 47 61
18242245 2008
29
Distinctive microRNA profiles relating to patient survival in esophageal squamous cell carcinoma. 47 61
18172293 2008
30
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. 57
17522155 2007
31
Loss of RUNX3 expression significantly affects the clinical outcome of gastric cancer patients and its restoration causes drastic suppression of tumor growth and metastasis. 57
15930301 2005
32
Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours. 57
14520411 2003
33
Causal relationship between the loss of RUNX3 expression and gastric cancer. 57
11955451 2002
34
Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma. 57
11433530 2001
35
Accumulation of genetic alterations during esophageal carcinogenesis. 57
7874113 1994
36
Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis. 6
8187090 1994
37
Loss of heterozygosity involving the APC and MCC genetic loci occurs in the majority of human esophageal cancers. 57
1565631 1992
38
17p allelic deletions and p53 protein overexpression in Barrett's adenocarcinoma. 57
1680552 1991
39
Frequent loss of heterozygosity on chromosomes 1q, 5q, and 17p in human gastric carcinomas. 57
2032230 1991
40
Palliative radiotherapy after oesophageal cancer stenting (ROCS): a multicentre, open-label, phase 3 randomised controlled trial. 42
33610215 2021
41
Aberrant promoter methylation and reduced expression of p16 gene in esophageal squamous cell carcinoma from Kashmir valley: a high-risk area. 54 61
19513816 2009
42
Heparanase expression by Barrett's epithelium and during esophageal carcinoma progression. 54 61
19749739 2009
43
Cytotoxicity of adenoviruses expressing the wild-type p53 gene to esophageal carcinoma cells is linked with the CAR expression level and indirectly with the endogenous p53 status. 61 54
19363469 2009
44
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 61 54
19259700 2009
45
Activation of NFAT signal by p53-K120R mutant. 54 61
19416725 2009
46
p53 Arg72Pro and MDM2 T309G polymorphisms, histology, and esophageal cancer prognosis. 54 61
19383811 2009
47
Krüppel-like factor 4 represses transcription of the survivin gene in esophageal cancer cell lines. 61 54
19361279 2009
48
Association studies of CYP1A1 and GSTM1 polymorphisms with esophageal cancer risk: evidence-based meta-analyses. 54 61
19427967 2009
49
MicroRNA-21 regulates the proliferation and invasion in esophageal squamous cell carcinoma. 47
19276261 2009
50
Activin A enhances MMP-7 activity via the transcription factor AP-1 in an esophageal squamous cell carcinoma cell line. 61 54
18695873 2008

Variations for Esophageal Cancer

ClinVar genetic disease variations for Esophageal Cancer:

6 (show top 50) (show all 268)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLEC1 NM_007335.4(DLEC1):c.5212C>A (p.Arg1738=) SNV Pathogenic 997661 GRCh37: 3:38163847-38163847
GRCh38: 3:38122356-38122356
2 LZTS1 NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro) SNV Pathogenic 4245 rs28937897 GRCh37: 8:20112608-20112608
GRCh38: 8:20255097-20255097
3 LZTS1 NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu) SNV Pathogenic 4246 rs119473032 GRCh37: 8:20111087-20111087
GRCh38: 8:20253576-20253576
4 WWOX NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) SNV Pathogenic 5203 rs119487098 GRCh37: 16:78466465-78466465
GRCh38: 16:78432568-78432568
5 RNF6 NM_005977.4(RNF6):c.305G>A (p.Arg102Lys) SNV Pathogenic 5700 rs121434522 GRCh37: 13:26789714-26789714
GRCh38: 13:26215577-26215577
6 RNF6 NM_005977.4(RNF6):c.724G>A (p.Ala242Thr) SNV Pathogenic 5701 rs121434523 GRCh37: 13:26789295-26789295
GRCh38: 13:26215158-26215158
7 RNF6 NM_005977.4(RNF6):c.731G>A (p.Gly244Asp) SNV Pathogenic 5702 rs121434524 GRCh37: 13:26789288-26789288
GRCh38: 13:26215151-26215151
8 TGFBR2 NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) SNV Pathogenic 12503 rs121918714 GRCh37: 3:30732963-30732963
GRCh38: 3:30691471-30691471
9 DCC NM_005215.4(DCC):c.503T>C (p.Met168Thr) SNV Pathogenic 17075 rs121912967 GRCh37: 18:50432504-50432504
GRCh38: 18:52906134-52906134
10 TP53 NM_000546.6(TP53):c.298delC Deletion Pathogenic 634674 rs1567556006 GRCh37: 17:7579389-7579389
GRCh38: 17:7676071-7676071
11 TP53 NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del) Deletion Pathogenic 984966 GRCh37: 17:7578210-7578221
GRCh38: 17:7674892-7674903
12 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
13 WWOX NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) SNV Pathogenic 241105 rs756762196 GRCh37: 16:78458951-78458951
GRCh38: 16:78425054-78425054
14 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) SNV Pathogenic 12519 rs104893819 GRCh37: 3:30729962-30729962
GRCh38: 3:30688470-30688470
15 TP53 NM_000546.6(TP53):c.583A>T SNV Pathogenic 376617 rs942158624 GRCh37: 17:7578266-7578266
GRCh38: 17:7674948-7674948
16 DLEC1 NM_007335.4(DLEC1):c.1919+1G>A SNV Pathogenic 1029157 GRCh37: 3:38135259-38135259
GRCh38: 3:38093768-38093768
17 DLEC1 NM_007335.4(DLEC1):c.1919+2T>G SNV Pathogenic 1031732 GRCh37: 3:38135260-38135260
GRCh38: 3:38093769-38093769
18 TP53 NM_000546.5(TP53):c.724T>A (p.Cys242Ser) SNV Likely pathogenic 376579 rs1057519982 GRCh37: 17:7577557-7577557
GRCh38: 17:7674239-7674239
19 FBXW7 NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) SNV Likely pathogenic 376424 rs1057519896 GRCh37: 4:153247288-153247288
GRCh38: 4:152326136-152326136
20 TP53 NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) SNV Likely pathogenic 127820 rs587780073 GRCh37: 17:7577580-7577580
GRCh38: 17:7674262-7674262
21 FBXW7 NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) SNV Likely pathogenic 376425 rs1057519896 GRCh37: 4:153247288-153247288
GRCh38: 4:152326136-152326136
22 TP53 NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) SNV Likely pathogenic 219759 rs864622237 GRCh37: 17:7577581-7577581
GRCh38: 17:7674263-7674263
23 TP53 NM_000546.5(TP53):c.700T>C (p.Tyr234His) SNV Likely pathogenic 376691 rs864622237 GRCh37: 17:7577581-7577581
GRCh38: 17:7674263-7674263
24 FBXW7 NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) SNV Likely pathogenic 376426 rs149680468 GRCh37: 4:153247289-153247289
GRCh38: 4:152326137-152326137
25 FBXW7 NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) SNV Likely pathogenic 69961 rs149680468 GRCh37: 4:153247289-153247289
GRCh38: 4:152326137-152326137
26 FBXW7 NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) SNV Likely pathogenic 376423 rs149680468 GRCh37: 4:153247289-153247289
GRCh38: 4:152326137-152326137
27 EP300 NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) SNV Likely pathogenic 376401 rs1057519889 GRCh37: 22:41565529-41565529
GRCh38: 22:41169525-41169525
28 EP300 NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) SNV Likely pathogenic 376402 rs1057519889 GRCh37: 22:41565529-41565529
GRCh38: 22:41169525-41169525
29 RHOA NM_001664.4(RHOA):c.13C>T (p.Arg5Trp) SNV Likely pathogenic 376519 rs1057519952 GRCh37: 3:49413010-49413010
GRCh38: 3:49375577-49375577
30 RHOA NM_001664.4(RHOA):c.14G>T (p.Arg5Leu) SNV Likely pathogenic 376521 rs1057519953 GRCh37: 3:49413009-49413009
GRCh38: 3:49375576-49375576
31 RHOA NM_001664.4(RHOA):c.14G>A (p.Arg5Gln) SNV Likely pathogenic 376520 rs1057519953 GRCh37: 3:49413009-49413009
GRCh38: 3:49375576-49375576
32 TP53 NM_000546.5(TP53):c.332T>G (p.Leu111Arg) SNV Likely pathogenic 376631 rs1057519997 GRCh37: 17:7579355-7579355
GRCh38: 17:7676037-7676037
33 ERBB2 NM_004448.3(ERBB2):c.2305G>A (p.Asp769Asn) SNV Likely pathogenic 376403 rs121913468 GRCh37: 17:37880261-37880261
GRCh38: 17:39724008-39724008
34 ERBB2 NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) SNV Likely pathogenic 375991 rs121913468 GRCh37: 17:37880261-37880261
GRCh38: 17:39724008-39724008
35 ERBB2 NM_004448.3(ERBB2):c.2305G>T (p.Asp769Tyr) SNV Likely pathogenic 375992 rs121913468 GRCh37: 17:37880261-37880261
GRCh38: 17:39724008-39724008
36 TP53 NM_000546.5(TP53):c.332T>C (p.Leu111Pro) SNV Likely pathogenic 376630 rs1057519997 GRCh37: 17:7579355-7579355
GRCh38: 17:7676037-7676037
37 WWOX NM_016373.4(WWOX):c.108-2A>T SNV Likely pathogenic 804478 rs1597207802 GRCh37: 16:78142318-78142318
GRCh38: 16:78108421-78108421
38 TGFBR2 NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro) SNV Likely pathogenic 930524 GRCh37: 3:30715697-30715697
GRCh38: 3:30674205-30674205
39 FGFR2 NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) SNV Likely pathogenic 376431 rs121913474 GRCh37: 10:123274774-123274774
GRCh38: 10:121515260-121515260
40 FGFR2 NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr) SNV Likely pathogenic 376432 rs1057519900 GRCh37: 10:123274773-123274773
GRCh38: 10:121515259-121515259
41 FGFR2 NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His) SNV Likely pathogenic 376316 rs387906678 GRCh37: 10:123274777-123274777
GRCh38: 10:121515263-121515263
42 PIK3CA NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) SNV Likely pathogenic 31944 rs121913273 GRCh37: 3:178936082-178936082
GRCh38: 3:179218294-179218294
43 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV Likely pathogenic 13655 rs104886003 GRCh37: 3:178936091-178936091
GRCh38: 3:179218303-179218303
44 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV Likely pathogenic 13652 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 3:179234297-179234297
45 TP53 NM_000546.5(TP53):c.487T>C (p.Tyr163His) SNV Likely pathogenic 376680 rs786203436 GRCh37: 17:7578443-7578443
GRCh38: 17:7675125-7675125
46 TP53 NM_000546.5(TP53):c.721T>G (p.Ser241Ala) SNV Likely pathogenic 376665 rs1057520002 GRCh37: 17:7577560-7577560
GRCh38: 17:7674242-7674242
47 TP53 NM_000546.5(TP53):c.585C>G (p.Ile195Met) SNV Likely pathogenic 376620 rs1057519994 GRCh37: 17:7578264-7578264
GRCh38: 17:7674946-7674946
48 TP53 NM_000546.5(TP53):c.709A>G (p.Met237Val) SNV Likely pathogenic 182934 rs730882004 GRCh37: 17:7577572-7577572
GRCh38: 17:7674254-7674254
49 TP53 NM_001126115.1(TP53):c.-3A>C SNV Likely pathogenic 376628 rs747342068 GRCh37: 17:7578536-7578536
GRCh38: 17:7675218-7675218
50 TP53 NM_000546.5(TP53):c.832C>G (p.Pro278Ala) SNV Likely pathogenic 376645 rs17849781 GRCh37: 17:7577106-7577106
GRCh38: 17:7673788-7673788

UniProtKB/Swiss-Prot genetic disease variations for Esophageal Cancer:

72
# Symbol AA change Variation ID SNP ID
1 CRNN p.Gly480Ser VAR_048471 rs3829868
2 TGFBR2 p.Glu526Gln VAR_015816 rs121918714

Cosmic variations for Esophageal Cancer:

9 (show top 50) (show all 33598)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM142081527 ZSCAN18 oesophagus,NS,carcinoma,squamous cell carcinoma c.1006+2T>A p.? 19:58086172-58086172 18
2 COSM140961271 ZSCAN18 oesophagus,NS,carcinoma,squamous cell carcinoma c.838+2T>A p.? 19:58086172-58086172 18
3 COSM109468109 ZSCAN18 oesophagus,NS,carcinoma,squamous cell carcinoma c.433+2T>A p.? 19:58086172-58086172 18
4 COSM86897778 ZSCAN18 oesophagus,NS,carcinoma,squamous cell carcinoma c.838+2T>A p.? 19:58086172-58086172 18
5 COSM98059731 ZNF831 oesophagus,NS,carcinoma,squamous cell carcinoma c.605T>C p.L202P 20:59191624-59191624 18
6 COSM149923539 ZNF831 oesophagus,NS,carcinoma,squamous cell carcinoma c.605T>C p.L202P 20:59191624-59191624 18
7 COSM88515958 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.938C>G p.S313C 17:82831517-82831517 18
8 COSM88515712 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.668C>G p.S223* 17:82831787-82831787 18
9 COSM138690836 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-31C>G p.? 17:82831517-82831517 18
10 COSM88513307 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.170C>G p.S57* 17:82832285-82832285 18
11 COSM88514972 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.80G>C p.C27S 17:82832375-82832375 18
12 COSM138689938 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-889G>C p.? 17:82832375-82832375 18
13 COSM138689466 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-201C>G p.? 17:82831687-82831687 18
14 COSM138688764 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-799C>G p.? 17:82832285-82832285 18
15 COSM88514017 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.777C>A p.Y259* 17:82831678-82831678 18
16 COSM88515841 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.37C>A p.H13N 17:82832418-82832418 18
17 COSM138689254 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-192C>A p.? 17:82831678-82831678 18
18 COSM88514274 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.768C>G p.Y256* 17:82831687-82831687 18
19 COSM138690667 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-301C>G p.? 17:82831787-82831787 18
20 COSM138690762 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.-229-932C>A p.? 17:82832418-82832418 18
21 COSM90465117 ZNF548 oesophagus,NS,carcinoma,squamous cell carcinoma c.1016A>C p.H339P 19:57399267-57399267 18
22 COSM93683971 ZNF548 oesophagus,NS,carcinoma,squamous cell carcinoma c.980A>C p.H327P 19:57399267-57399267 18
23 COSM102366084 ZNF365 oesophagus,NS,carcinoma,squamous cell carcinoma c.712G>A p.E238K 10:62376905-62376905 18
24 COSM102372996 ZNF365 oesophagus,NS,carcinoma,squamous cell carcinoma c.712G>A p.E238K 10:62376905-62376905 18
25 COSM104733716 ZNF365 oesophagus,NS,carcinoma,squamous cell carcinoma c.712G>A p.E238K 10:62376905-62376905 18
26 COSM109217250 ZNF230 oesophagus,NS,carcinoma,squamous cell carcinoma c.87G>C p.Q29H 19:44008861-44008861 18
27 COSM139548867 ZNF230 oesophagus,NS,carcinoma,squamous cell carcinoma c.87G>C p.Q29H 19:44008861-44008861 18
28 COSM100770466 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1117C>T p.R373W 17:32369340-32369340 18
29 COSM100755139 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1210C>T p.R404W 17:32369340-32369340 18
30 COSM90696431 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1219C>T p.R407W 17:32369340-32369340 18
31 COSM139216379 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1210C>T p.R404W 17:32369340-32369340 18
32 COSM91133838 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1162C>T p.R388W 17:32369340-32369340 18
33 COSM131330822 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
34 COSM94832002 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
35 COSM88860826 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
36 COSM88887411 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.86A>T p.E29V 23:152919042-152919042 18
37 COSM89189081 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.71A>T p.E24V 23:152919042-152919042 18
38 COSM94818098 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
39 COSM129903764 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
40 COSM112129853 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
41 COSM125164549 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.9439C>T p.P3147S 8:76863231-76863231 18
42 COSM125167660 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.6188C>A p.P2063H 8:76853187-76853187 18
43 COSM127363671 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.2120C>G p.S707C 8:76706208-76706208 18
44 COSM127389059 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.10574C>T p.S3525F 8:76864288-76864288 18
45 COSM127376736 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.4099G>A p.D1367N 8:76851020-76851020 18
46 COSM127405081 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.439G>T p.E147* 8:76704527-76704527 18
47 COSM125134824 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.6767G>A p.R2256Q 8:76853766-76853766 18
48 COSM127390973 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.9517C>T p.P3173S 8:76863231-76863231 18
49 COSM127363056 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.6845G>A p.R2282Q 8:76853766-76853766 18
50 COSM125162303 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.10496C>T p.S3499F 8:76864288-76864288 18

Copy number variations for Esophageal Cancer from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32702 1 39027237 40780163 Amplification MYCL Esophageal cancer
2 35731 1 66691991 71187083 Deletion CTH Esophageal cancer
3 38511 10 10309026 19155158 Deletion Esophageal cancer
4 41416 10 17811791 65388337 Amplification Esophageal cancer
5 43899 10 50393324 70694787 Deletion Esophageal cancer
6 48565 11 100815801 103042620 Amplification BIRC2 Esophageal cancer
7 48566 11 100815801 103042620 Amplification BIRC3 Esophageal cancer
8 48567 11 100815801 103042620 Amplification YAP1 Esophageal cancer
9 55251 11 50256798 61426521 Deletion Esophageal cancer
10 58612 11 68753086 69985447 Amplification CCND1 Esophageal cancer
11 58613 11 68753086 69985447 Amplification CTTN Esophageal cancer
12 58614 11 68753086 69985447 Amplification FGF19 Esophageal cancer
13 58615 11 68753086 69985447 Amplification FGF3 Esophageal cancer
14 58616 11 68753086 69985447 Amplification FGF4 Esophageal cancer
15 58617 11 68753086 69985447 Amplification MYEOV Esophageal cancer
16 58701 11 69200000 70700000 Gain PPFIA1 Esophageal cancer
17 61418 12 1 132078379 Deletion Esophageal cancer
18 79288 13 68772537 113042980 Deletion Esophageal cancer
19 80978 14 1 105311216 Deletion Esophageal cancer
20 83027 14 19100000 23600000 Gain NFATC4 Esophageal cancer
21 84103 14 23600000 31800000 Gain ARHGAP5 Esophageal cancer
22 84107 14 23600000 36900000 Gain PAX9 Esophageal cancer
23 85295 14 42828345 44176016 Deletion Esophageal cancer
24 111151 17 35097918 35138441 Copy number ERBB2 Esophageal cancer
25 119155 18 1 1118244 Amplification TYMS Esophageal cancer
26 119156 18 1 1118244 Amplification YES1 Esophageal cancer
27 121678 18 46081464 51919972 Deletion SMAD4 Esophageal cancer
28 137284 2 141590067 141951947 Deletion LRP1B Esophageal cancer
29 151504 20 22140447 26145930 Amplification PYGB Esophageal cancer
30 157032 21 1 29932926 Deletion Esophageal cancer
31 160899 22 16558724 17937900 Amplification BID Esophageal cancer
32 160900 22 16558724 17937900 Amplification CLDN5 Esophageal cancer
33 161388 22 18577713 20667607 Amplification CRKL Esophageal cancer
34 161389 22 18577713 20667607 Amplification MAPK1 Esophageal cancer
35 163870 22 31889314 32003182 Amplification LARGE1 Esophageal cancer
36 166067 3 1 199344050 Deletion Esophageal cancer
37 169829 3 14700000 43600000 Loss RAB5A Esophageal cancer
38 171482 3 168801287 168851758 Amplification MECOM Esophageal cancer
39 171491 3 168867391 169381563 Amplification MECOM Esophageal cancer
40 173071 3 189400000 193800000 Gain TP63 Esophageal cancer
41 174749 3 32100000 54400000 Loss SCN10A Esophageal cancer
42 175197 3 3800000 87200000 Loss ATXN7 Esophageal cancer
43 175734 3 43600000 51400000 Loss CTDSPL Esophageal cancer
44 177631 3 59735036 61237133 Deletion FHIT Esophageal cancer
45 179189 3 8700000 14700000 Loss RAF1 Esophageal cancer
46 179592 3 95917505 101945216 Amplification RIOX2 Esophageal cancer
47 190878 4 91972774 162358674 Deletion CASP6 Esophageal cancer
48 190879 4 91972774 162358674 Deletion SMAD1 Esophageal cancer
49 191757 5 10051329 11800765 Amplification CTNND2 Esophageal cancer
50 198525 5 25700000 76400000 Loss F2R Esophageal cancer

Expression for Esophageal Cancer

Search GEO for disease gene expression data for Esophageal Cancer.

Pathways for Esophageal Cancer

Pathways related to Esophageal Cancer according to KEGG:

36
# Name Kegg Source Accession
1 MicroRNAs in cancer hsa05206

Pathways related to Esophageal Cancer according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.77 ZEB2 ZEB1 TP53 MIR373 MIR34A MIR30E
2 11.38 ZEB2 ZEB1 TP53 TGFBR2
3 11.26 MIR30E MIR16-2 MIR106A
4 10.34 TP53 HOTAIR

GO Terms for Esophageal Cancer

Cellular components related to Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 9.17 MIR34A MIR30E MIR21 MIR16-2 MIR148A MIR126

Biological processes related to Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.77 TP53 TGFBR2 MIR21 MIR16-2 DLEC1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.63 TP53 TGFBR2 MIR21
3 miRNA mediated inhibition of translation GO:0035278 9.56 MIR21 MIR16-2 MIR148A MIR106A
4 negative regulation of vascular endothelial cell proliferation GO:1905563 9.5 MIR34A MIR30E MIR126
5 positive regulation of keratinocyte proliferation GO:0010838 9.43 MIR21 CRNN
6 positive regulation of connective tissue replacement GO:1905205 9.4 MIR34A MIR16-2
7 positive regulation of cardiac muscle cell apoptotic process GO:0010666 9.33 TP53 MIR34A MIR16-2
8 negative regulation of vascular endothelial growth factor production GO:1904046 9.26 MIR373 MIR34A MIR16-2 MIR106A
9 gene silencing by miRNA GO:0035195 9.23 MIR373 MIR34A MIR30E MIR21 MIR16-2 MIR148A

Molecular functions related to Esophageal Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.43 TP53 MIR34A MIR21 MIR16-2 MIR126 MIR106A
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.23 MIR373 MIR34A MIR30E MIR21 MIR16-2 MIR148A

Sources for Esophageal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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