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ESCR
MCID: ESP021
MIFTS: 83

Esophageal Cancer (ESCR)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Esophageal Cancer

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MalaCards integrated aliases for Esophageal Cancer:

Name: Esophageal Cancer 57 11 19 73 12 5 41 14 36 75
Esophageal Carcinoma 11 58 53 14 16 71
Carcinoma of Esophagus 11 58 28 5
Esophageal Squamous Cell Carcinoma, Somatic 57 5
Esophageal Carcinoma, Somatic 57 5
Gastric Cardia Adenocarcinoma 73 71
Esophageal Neoplasms 43 71
Esophagus Cancer 11 19
Malignant Tumor of the Middle Third of the Esophagus 11
Malignant Neoplasm of Proximal Third of Esophagus 11
Malignant Neoplasm of Middle Third of Oesophagus 11
Malignant Neoplasm of Distal Third of Esophagus 11
Malignant Neoplasm of Lower Third of Oesophagus 11
Malignant Neoplasm of Middle Third of Esophagus 71
Malignant Tumor of Proximal Third of Esophagus 11
Malignant Tumor of Distal Third of Esophagus 11
Malignant Neoplasm of Upper Third Esophagus 11
Malignant Tumor of Abdominal Esophagus 11
Squamous Cell Carcinoma of Esophagus 71
Esophageal Squamous Cell Carcinoma 73
Malignant Neoplasm of Esophagus 71
Esophageal Cancer, Somatic 57
Ca Middle Third Oesophagus 11
Aerodigestive Tract Cancer 73
Ca Lower Third Oesophagus 11
Carcinoma of Oesophagus 11
Cancer of Oesophagus 11
Cancer of Esophagus 11
Cancer, Esophageal 38
Escc 73
Escr 73

Characteristics:


Inheritance:

Somatic mutation 57

Prevelance:

Carcinoma of Esophagus: 1-9/100000 (Worldwide, Europe, Europe, United States, Worldwide, France, India, Africa, Japan, Russian Federation, Austria, Belgium, Bulgaria, Croatia, Czech Republic, Estonia, Finland, Germany, Iceland, Ireland, Italy, Latvia, Lithuania, Malta, Norway, Poland, Portugal, Slovakia, Slovenia, Spain, Switzerland, Netherlands) 1-5/10000 (Europe, United Kingdom, China, Latin America) 1-9/1000000 (Iran, Islamic Republic of) 58

Age Of Onset:

Carcinoma of Esophagus: Adult 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 31
Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 11 DOID:1107 DOID:5041
OMIM® 57 133239
MeSH 43 D004938
UMLS via Orphanet 72 C0014859 C0152018 C0546837
Orphanet 58 ORPHA70482
UMLS 71 C0014859 C0152018 C0153413 more
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Summaries for Esophageal Cancer

About this section

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 08-Dec-2022)

MalaCards based summary: Esophageal Cancer, also known as esophageal carcinoma, is related to esophagus squamous cell carcinoma and squamous cell carcinoma, 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 Epithelial to mesenchymal transition in colorectal cancer and miRNAs involved in DNA damage response. The drugs Iron and Iron isomaltoside 1000 have been mentioned in the context of this disorder. Affiliated tissues include esophagus, lymph node and lung, and related phenotypes are dysphagia and weight loss

GARD: 19 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, variationss 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.

MedlinePlus: 41 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

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC).

Disease Ontology 11 Esophageal cancer: A gastrointestinal system cancer that is located in the esophagus.

Esophageal carcinoma: A esophageal cancer that has material basis in abnormally proliferating cells derives from epithelial cells.

Wikipedia: 75 Esophageal cancer is cancer arising from the esophagus—the food pipe that runs between the throat and... more...
Sources

Related Diseases for Esophageal Cancer

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

(show top 50) (show all 1059)
# Related Disease Score Top Affiliating Genes
1 esophagus squamous cell carcinoma 33.7 WWOX TGFBR2 RNF6 PVT1 HOTAIR CASC9
2 squamous cell carcinoma 32.9 WWOX TP53 TGFBR2 RNF6 HOTAIR CRNN
3 gastric cancer 32.3 ZEB2 TP53 TGFBR2 PVT1 MIR34A MIR21
4 head and neck cancer 32.2 TP53 MIR373 MIR34A MIR30E MIR21 MIR126
5 lung cancer 32.0 ZEB1 TP53 TGFBR2 PVT1 MIR373 MIR34A
6 esophageal disease 32.0 TP53 MIR34A MIR21 MIR126
7 hepatocellular carcinoma 31.9 ZEB2 ZEB1 TP53 TGFBR2 PVT1 MIR373
8 squamous cell carcinoma, head and neck 31.9 TP53 TGFBR2 MIR373 MIR30E MIR21 MIR148A
9 pancreatic ductal adenocarcinoma 31.7 TP53 PVT1 MIR34A MIR30E MIR21 MIR148A
10 breast cancer 31.6 ZEB2 ZEB1 WWOX TP53 TGFBR2 PVT1
11 thoracic cancer 31.6 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
12 pancreatic cancer 31.6 ZEB2 ZEB1 TP53 TGFBR2 PVT1 MIR34A
13 gastrointestinal system disease 31.5 MIR34A MIR30E MIR21 MIR148A MIR126 MIR106A
14 nasopharyngeal carcinoma 31.5 TP53 TGFBR2 PVT1 MIR30E MIR21 MIR148A
15 leukemia, acute myeloid 31.4 ZEB1 TP53 MIR34A MIR30E MIR21 MIR126
16 lung cancer susceptibility 3 31.4 TP53 TGFBR2 MIR30E MIR21 MIR126 HOTAIR
17 connective tissue disease 31.4 TP53 TGFBR2 MIR373 MIR34A MIR30E MIR21
18 lymphatic system disease 31.4 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
19 pharynx cancer 31.4 MIR30E MIR21 MIR148A MIR126 MIR106A
20 oral squamous cell carcinoma 31.4 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
21 ovarian cancer 31.4 ZEB2 ZEB1 WWOX TP53 TGFBR2 PVT1
22 biliary tract cancer 31.4 TP53 TGFBR2 MIR373 MIR30E MIR21 MIR126
23 kidney cancer 31.4 TP53 PVT1 MIR21 MIR126 MIR106A HOTAIR
24 lymphoma, non-hodgkin, familial 31.3 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
25 type 2 diabetes mellitus 31.3 TP53 PVT1 MIR34A MIR30E MIR21 MIR148A
26 gallbladder cancer 31.3 TP53 TGFBR2 MIR373 MIR30E MIR126 HOTAIR
27 peripheral nervous system disease 31.3 TP53 MIR34A MIR30E MIR21 MIR126
28 colonic benign neoplasm 31.2 TP53 TGFBR2 MIR21
29 renal cell carcinoma, nonpapillary 31.2 ZEB2 ZEB1 TP53 TGFBR2 PVT1 MIR34A
30 retinitis pigmentosa 11 31.2 ZEB1 TP53 PVT1 MIR126 HOTAIR
31 thyroid cancer, nonmedullary, 1 31.1 TP53 PVT1 HOTAIR
32 brain cancer 31.1 TP53 MIR34A MIR21 MIR126
33 body mass index quantitative trait locus 11 31.1 TP53 MIR34A MIR30E MIR21 MIR148A MIR126
34 rectum cancer 31.1 TP53 MIR21 MIR126
35 cervical cancer 31.0 TP53 PVT1 MIR34A MIR21 HOTAIR
36 bone marrow cancer 31.0 TP53 MIR34A MIR21 MIR148A MIR126
37 cholangiocarcinoma 31.0 TP53 MIR373 MIR21 MIR148A
38 dermatomyositis 31.0 MIR34A MIR21 MIR148A
39 glioma 31.0 TP53 PVT1 MIR34A MIR21 HOTAIR
40 stomach disease 31.0 MIR34A MIR21 MIR148A MIR126 MIR106A
41 prostate cancer 30.9 ZEB1 TP53 TGFBR2 PVT1 MIR34A MIR21
42 gastrointestinal system cancer 30.9 MIR34A MIR30E MIR21 MIR148A MIR126 MIR106A
43 leukemia, chronic lymphocytic 30.9 TP53 MIR373 MIR34A MIR30E MIR21 MIR16-2
44 oral cavity cancer 30.9 MIR373 MIR21 MIR126 MIR106A
45 central nervous system cancer 30.9 TP53 MIR34A MIR30E MIR21 MIR148A MIR126
46 hematologic cancer 30.8 PVT1 MIR34A MIR21 MIR148A MIR126 MIR106A
47 aortic valve disease 2 30.8 MIR34A MIR21 MIR126
48 small cell cancer of the lung 30.8 TP53 MIR21 HOTAIR
49 glioma susceptibility 1 30.7 TP53 MIR21 MIR106A
50 arteries, anomalies of 30.7 MIR34A MIR30E MIR21 MIR148A MIR126

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
Sources

Symptoms & Phenotypes for Esophageal Cancer

About this section

Human phenotypes related to Esophageal Cancer:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002015
2 weight loss 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001824
3 recurrent singultus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100247
4 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002020
5 abnormality of the voice 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001608
6 cough 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012735
7 abnormality of the neck 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000464
8 chest pain 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100749
9 lymphadenopathy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002716
10 obesity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001513
11 abnormal intestine morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002242
12 barrett esophagus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100580
13 esophageal neoplasm 58 Very frequent (99-80%)
14 esophageal carcinoma 30 HP:0011459

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
esophageal cancer
esophageal squamous cell carcinoma

Clinical features from OMIM®:

133239 (Updated 08-Dec-2022)

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:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.74 CRNN
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.74 WWOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.74 ZEB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.74 TP53
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.74 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.74 WWOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.74 TP53
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.74 WWOX
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.74 WWOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 TP53 WWOX
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.74 CRNN
12 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.74 TP53
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.74 TP53 WWOX
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.74 TP53
15 Increased shRNA abundance (Z-score > 2) GR00366-A-20 9.74 TP53
16 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.74 CRNN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.74 CRNN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.74 TP53
19 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.74 TP53
20 Increased shRNA abundance (Z-score > 2) GR00366-A-62 9.74 TP53
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.74 WWOX
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.74 ZEB2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.74 CRNN
24 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.74 WWOX

MGI Mouse Phenotypes related to Esophageal Cancer:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.55 DCC TGFBR2 TP53 ZEB1 ZEB2
2 neoplasm MP:0002006 9.5 DCC LZTS1 MIR34A TGFBR2 TP53 WWOX
3 no phenotypic analysis MP:0003012 9.17 HOTAIR MIR126 MIR30E MIR34A TP53 WWOX
Sources

Drugs & Therapeutics for Esophageal Cancer

About this section

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

(show top 50) (show all 498)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 29936
2
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Pravastatin Approved Phase 4 81093-37-0 54687
7
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
8
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
9
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
10
Nicotine Approved Phase 4 54-11-5 942 89594
11
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
12
Phenylephrine Approved Phase 4 59-42-7 6041
13
Norepinephrine Approved Phase 4 51-41-2 439260
14
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
15
Dobutamine Approved Phase 4 34368-04-2 36811
16
Reviparin Approved, Investigational Phase 4 9041-08-1
17
Nedaplatin Approved, Investigational Phase 4 95734-82-0
18 Endostar protein Phase 4
19 Hypolipidemic Agents Phase 4
20 Lipid Regulating Agents Phase 4
21 Anticholesteremic Agents Phase 4
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
23 Anti-Inflammatory Agents, Non-Steroidal Phase 4
24 Anti-Inflammatory Agents Phase 4
25 Analgesics Phase 4
26 Anesthetics Phase 4
27 Central Nervous System Stimulants Phase 4
28 Dopamine Uptake Inhibitors Phase 4
29 Dopamine Agents Phase 4
30 Nicotinic Agonists Phase 4
31 Cholinergic Agents Phase 4
32 Proton Pump Inhibitors Phase 4
33 Neuromuscular Nondepolarizing Agents Phase 4
34 Neuromuscular Blocking Agents Phase 4
35 Vasoconstrictor Agents Phase 4
36 Calcium, Dietary Phase 4
37 Hormones Phase 4
38 Heparin, Low-Molecular-Weight Phase 4
39 FOLFIRINOX Phase 4
40
Calcium Nutraceutical Phase 4 7440-70-2 271
41
Menthol Approved, Experimental Phase 3 1490-04-6, 2216-51-5, 15356-60-2 1254 16666 165675
42
Esomeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6, 119141-88-7 9568614 4594
43
Trioxsalen Approved Phase 3 3902-71-4 5585
44
Cobalt Approved, Experimental, Withdrawn Phase 3 7440-48-4 104729
45
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
46
Epirubicin Approved Phase 3 56420-45-2 41867
47
Ranitidine Approved, Withdrawn Phase 3 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
48
Chlorpheniramine Approved Phase 3 113-92-8, 132-22-9 2725
49
Ethanol Approved Phase 3 64-17-5 702
50
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006

Interventional clinical trials:

(show top 50) (show all 1742)
# Name Status NCT ID Phase Drugs
1 A Clinical Study of Endostar Combined With TP Regimen for Chemoradiotherapy in Esophageal Cancer Unknown status NCT04164797 Phase 4 endostar+chemoradiotherapy
2 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
3 Intrathoracic Esophagogastric Anastomosis After Robot Assisted Minimally Invasive Esophagectomy Using STRATAFIX Unknown status NCT02609425 Phase 4
4 Implementation of Pre-emptive Geno- and Phenotyping in 5-Fluorouracil- or Capecitabine-treated Patients With the Aim of Reducing Toxicity Unknown status NCT04269369 Phase 4 5-Fluorouracil
5 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
6 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
7 Postoperative Pain Management After Minimally Invasive Esophagectomy Unknown status NCT02042313 Phase 4
8 H.O.P.E. Healing Optimization Through Preoperative Engagement: A Prospective Single Cohort Study to Evaluate the Effect of a Prehabilitation Program on Preoperative Outcomes in Upper GI Surgical Oncology Patients Unknown status NCT03642093 Phase 4
9 Randomized Controlled Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer Unknown status NCT01038154 Phase 4 Pravastatin
10 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
11 Effect of Enteral Immunonutrition During Chemoradiotherapy in Patients With Head and Neck Cancer or Esophageal Cancer Completed NCT00333099 Phase 4
12 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
13 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
14 Randomised Trial of the Effects of Individual Nutritional Counseling in Cancer Patients Completed NCT01962272 Phase 4
15 Multicenter Comparative of Toxicity and Effectiveness of Lobaplation or Cisplatin Based Adjuvant Chemotherapy in Esophageal Carcinoma Completed NCT03413436 Phase 4 Lobaplatin;Cisplatin
16 Study of Predictive Proteomic Factors of the Response to Exclusive Concomitant Radiochemotherapy in Oesophageal Cancer Completed NCT00911092 Phase 4 Chemotherapy (Fluorouracil and Cisplatin)
17 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
18 Whether 18F-ALF-NOTA-PRGD2 PET/CT Scan Can Predict the Efficacy and Adverse Events of Apatinib in Patients With Malignancies. Completed NCT03384511 Phase 4 Apatinib
19 A Randomized Controlled Double-blinded Trial Comparing the Effect of on Demand vs Deep Neuromuscular Relaxation on Rating of Surgical and Anesthesia Conditions in Patients Undergoing Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4 Rocuronium
20 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
21 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
22 Clinical and Medico-economic Evaluation of Radiofrequency Ablation Versus Oesophagectomy in the Treatment of High Grade Dysplasia in Barrett's Oesophagus Completed NCT02558504 Phase 4
23 Safety and Efficacy of Apatinib in Patients With Advanced Gastric or Gastroesophageal Junction Adenocarcinoma After Failure of Two or More Lines of Chemotherapy (Ahead-G201): a Prospective, Single-arm, Multicenter, Phase IV Study Completed NCT02426034 Phase 4 ApatinibTablets
24 Thromboprophylaxis in Oesophageal Cancer Patients - A Randomized, Controlled Trial Recruiting NCT05067153 Phase 4 Fragmin 5000 UNT in 0.2 ML Prefilled Syringe
25 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
26 A Perspective Trial of Sodium Glycididazole Combined With Concurrent Chemoradiotherapy for Locally Recurrent Squamous Cell Esophageal Carcinoma Terminated NCT02721576 Phase 4 Sodium Glycididazole
27 A Perspective Trial of Sodium Glycididazole Combined With Preoperatie Concurrent Chemoradiotherapy for Locally Advanced Squamous Cell Esophageal Carcinoma Terminated NCT02721550 Phase 4 Sodium Glycididazole
28 Phase Ⅲ Study of Prophylactic Postoperative Intensity Modulated Radiation Therapy in Stage T2-3N0M0 Disease of Thoracic Esophageal Squamous Cell Carcinoma; Unknown status NCT01745107 Phase 3
29 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
30 Three-arm Phase III Trial Comparing Radiotherapy With Different Chemotherapy Regimens for Esophageal Cancer Unknown status NCT02025036 Phase 3 Capecitabine(Aibin);Oxaliplatin(Aiheng)
31 A Randomized Phase III Study of Simultaneous Integrated Boost Intensity Modulated Radiation Therapy (SIB-IMRT) With or Without Concurrent Chemotherapy Followed by Consolidation Chemotherapy for Limited Lymphatic Metastasis of Esophageal Cancer - 3JECROG-P02 Unknown status NCT03308552 Phase 3 Paclitaxel;Platinum-Based Drug
32 Two-arm Phase III Trial Comparing Radiotherapy With Differentcycles of Cisplatin-5-fluorouracil for Esophageal Cancer Unknown status NCT02607540 Phase 3
33 Different Cycles of Capecitabine Usage in Esophageal Cancer Concurrent Chemoradiotherapy Unknown status NCT02603159 Phase 3 Capecitabine(Aibin)
34 Self-Expandable Esophageal Radiation Stent:a Multicentric Randomized Controlled Trial in Patients With Advanced Esophageal Cancer Unknown status NCT01054274 Phase 3
35 Randomized Control Study on Surgical Treatment for Middle and Lower Thoracic Esophageal Cancer Patients Without Upper Mediastinal Lymph Node Metastasis Through Left Versus Right Transthoracic Approach Unknown status NCT02448979 Phase 3
36 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
37 Efficacy of Nasogastric Tube Application in Postoperative Care of Esophagectomy: a Randomized Clinical Trial Unknown status NCT03273686 Phase 3
38 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
39 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
40 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
41 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
42 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
43 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
44 A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett's Metaplasia Unknown status NCT00357682 Phase 3 Esomeprazole;Aspirin
45 Randomized Study of Intrathoracic Side-to-side Stapled Esophagogastric Anastomosis Versus Circular-Stapled Technique in Ivor-Lewis Oesophagectomy Unknown status NCT01242124 Phase 2, Phase 3
46 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
47 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
48 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
49 Impact of Widths After Gastric Tube Reconstruction on Quality of Life for Patients With Esophagogastric Cancers Unknown status NCT01911832 Phase 3
50 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)

Search NIH Clinical Center for Esophageal Cancer

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Sources

Genetic Tests for Esophageal Cancer

About this section

Genetic tests related to Esophageal Cancer:

# Genetic test Affiliating Genes
1 Carcinoma of Esophagus 28
Sources

Anatomical Context for Esophageal Cancer

About this section

Organs/tissues related to Esophageal Cancer:

FMA: Esophagus
MalaCards : Lymph Node, Lung, T Cells, Bone Marrow, Liver, Testis, Breast
Sources

Publications for Esophageal Cancer

About this section

Articles related to Esophageal Cancer:

(show top 50) (show all 36292)
# Title Authors PMID Year
1
Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma. 62 57 5
12154016 2002
2
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 62 57
22960999 2012
3
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. 62 57
20729853 2010
4
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 62 57
20729852 2010
5
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. 62 57
16799631 2007
6
Gefitinib-sensitizing mutations in esophageal carcinoma. 62 5
16707764 2006
7
An LOH and mutational investigation of the ST7 gene locus in human esophageal carcinoma. 62 57
12545169 2003
8
Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma. 62 5
11956080 2002
9
Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma. 62 57
11433530 2001
10
Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. 62 57
11078757 2000
11
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. 62 57
10841811 2000
12
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 53 5
10789724 2000
13
Identification of novel regions of allelic loss from a genomewide scan of esophageal squamous-cell carcinoma in a high-risk Chinese population. 62 57
10679910 2000
14
Frequent loss of heterozygosity at the retinoblastoma locus in human esophageal cancers. 62 57
1913694 1991
15
Supplemental parenteral nutrition improves patient outcomes after esophageal cancer surgery: A single-center randomized controlled study. 62 41
36451459 2022
16
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer. 5
30816478 2019
17
Integrated genomic characterization of oesophageal carcinoma. 57
28052061 2017
18
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
19
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
20
Prognostic significance of differentially expressed miRNAs in esophageal cancer. 62 46
20309880 2011
21
MiRNAs and their association with locoregional staging and survival following surgery for esophageal carcinoma. 62 46
20628822 2011
22
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 57
19801978 2009
23
MicroRNA expression in squamous cell carcinoma and adenocarcinoma of the esophagus: associations with survival. 62 46
19789312 2009
24
MicroRNA-373 (miR-373) post-transcriptionally regulates large tumor suppressor, homolog 2 (LATS2) and stimulates proliferation in human esophageal cancer. 62 46
19501585 2009
25
Gene deletion of inositol hexakisphosphate kinase 2 predisposes to aerodigestive tract carcinoma. 57
19430495 2009
26
Multiple roles for Sox2 in the developing and adult mouse trachea. 57
19403656 2009
27
MicroRNA-21 regulates the proliferation and invasion in esophageal squamous cell carcinoma. 62 46
19276261 2009
28
MicroRNA expression profiles of esophageal cancer. 62 46
18242245 2008
29
Distinctive microRNA profiles relating to patient survival in esophageal squamous cell carcinoma. 62 46
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
The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. 5
10097140 1999
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. 5
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
Economic evaluation of FLOT and ECF/ECX perioperative chemotherapy in patients with resectable gastric or gastro-oesophageal junction adenocarcinoma. 41
36375981 2022
41
Phase 1 multicenter, dose-expansion study of ARX788 as monotherapy in HER2-positive advanced gastric and gastroesophageal junction adenocarcinoma. 41
36384091 2022
42
Heparanase expression by Barrett's epithelium and during esophageal carcinoma progression. 53 62
19749739 2009
43
Aberrant promoter methylation and reduced expression of p16 gene in esophageal squamous cell carcinoma from Kashmir valley: a high-risk area. 53 62
19513816 2009
44
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. 53 62
19363469 2009
45
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 53 62
19259700 2009
46
Activation of NFAT signal by p53-K120R mutant. 53 62
19416725 2009
47
p53 Arg72Pro and MDM2 T309G polymorphisms, histology, and esophageal cancer prognosis. 53 62
19383811 2009
48
Association studies of CYP1A1 and GSTM1 polymorphisms with esophageal cancer risk: evidence-based meta-analyses. 53 62
19427967 2009
49
Activin A enhances MMP-7 activity via the transcription factor AP-1 in an esophageal squamous cell carcinoma cell line. 53 62
18695873 2008
50
Upregulation of matrix metalloproteinase-1 (MMP-1) expression in oral carcinomas of betel quid (BQ) users: roles of BQ ingredients in the acceleration of tumour cell motility through MMP-1. 53 62
18571622 2008
Sources

Variations for Esophageal Cancer

About this section

ClinVar genetic disease variations for Esophageal Cancer:

5 (show top 50) (show all 269)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGFBR2 NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) SNV Pathogenic
 12503 rs121918714 GRCh37: 3:30732963-30732963
GRCh38: 3:30691471-30691471
2 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
3 LZTS1 NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro) SNV Pathogenic
 4245 rs28937897 GRCh37: 8:20112608-20112608
GRCh38: 8:20255097-20255097
4 LZTS1 NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu) SNV Pathogenic
 4246 rs119473032 GRCh37: 8:20111087-20111087
GRCh38: 8:20253576-20253576
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 DCC NM_005215.4(DCC):c.503T>C (p.Met168Thr) SNV Pathogenic
 17075 rs121912967 GRCh37: 18:50432504-50432504
GRCh38: 18:52906134-52906134
9 WWOX NM_016373.4(WWOX):c.1056G>C (p.Met352Ile) SNV Pathogenic
 1686306 GRCh37: 16:78466649-78466649
GRCh38: 16:78432752-78432752
10 WWOX NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) SNV Pathogenic
 241105 rs756762196 GRCh37: 16:78458951-78458951
GRCh38: 16:78425054-78425054
11 TP53 NM_000546.6(TP53):c.298del (p.Gln100fs) DEL Pathogenic
 634674 rs1567556006 GRCh37: 17:7579389-7579389
GRCh38: 17:7676071-7676071
12 TP53 NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del) DEL Pathogenic
 984966 rs2073329654 GRCh37: 17:7578210-7578221
GRCh38: 17:7674892-7674903
13 TGFBR2 NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) SNV Pathogenic
 1028591 rs1575158079 GRCh37: 3:30713809-30713809
GRCh38: 3:30672317-30672317
14 TGFBR2 NM_003242.6(TGFBR2):c.1447del (p.Cys483fs) DEL Pathogenic
 1686258 GRCh37: 3:30729926-30729926
GRCh38: 3:30688434-30688434
15 WWOX NM_016373.4(WWOX):c.872T>C (p.Leu291Pro) SNV Pathogenic
 5203 rs119487098 GRCh37: 16:78466465-78466465
GRCh38: 16:78432568-78432568
16 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) SNV Pathogenic
 12519 rs104893819 GRCh37: 3:30729962-30729962
GRCh38: 3:30688470-30688470
17 WWOX NM_016373.4(WWOX):c.689A>C (p.Gln230Pro) SNV Pathogenic
 813767 GRCh37: 16:78458850-78458850
GRCh38: 16:78424953-78424953
18 TP53 NM_000546.6(TP53):c.583A>T (p.Ile195Phe) SNV Pathogenic
Likely Pathogenic
 376617 rs942158624 GRCh37: 17:7578266-7578266
GRCh38: 17:7674948-7674948
19 TGFBR2 NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) SNV Pathogenic
 811253 rs1575166666 GRCh37: 3:30732948-30732948
GRCh38: 3:30691456-30691456
20 FGFR2 NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) SNV Likely Pathogenic
 376431 rs121913474 GRCh37: 10:123274774-123274774
GRCh38: 10:121515260-121515260
21 FGFR2 NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr) SNV Likely Pathogenic
 376432 rs1057519900 GRCh37: 10:123274773-123274773
GRCh38: 10:121515259-121515259
22 CTNNB1 NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) SNV Likely Pathogenic
 17579 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
23 FGFR2 NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His) SNV Likely Pathogenic
 376316 rs387906678 GRCh37: 10:123274777-123274777
GRCh38: 10:121515263-121515263
24 TP53 NM_000546.6(TP53):c.641A>T (p.His214Leu) SNV Likely Pathogenic
 376616 rs1057519992 GRCh37: 17:7578208-7578208
GRCh38: 17:7674890-7674890
25 CTNNB1 NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) SNV Likely Pathogenic
 17586 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
26 CTNNB1 NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) SNV Likely Pathogenic
 375894 rs121913403 GRCh37: 3:41266113-41266113
GRCh38: 3:41224622-41224622
27 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Likely Pathogenic
 12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
28 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Likely Pathogenic
 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
29 TGFBR2 NM_003242.6(TGFBR2):c.1355T>C (p.Leu452Pro) SNV Likely Pathogenic
 930524 rs1699393884 GRCh37: 3:30715697-30715697
GRCh38: 3:30674205-30674205
30 WWOX NM_016373.4(WWOX):c.108-2A>T SNV Likely Pathogenic
 804478 rs1597207802 GRCh37: 16:78142318-78142318
GRCh38: 16:78108421-78108421
31 TP53 NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) SNV Likely Pathogenic
 376684 rs1057520008 GRCh37: 17:7578236-7578236
GRCh38: 17:7674918-7674918
32 TP53 NM_000546.6(TP53):c.745A>T (p.Arg249Trp) SNV Likely Pathogenic
 141881 rs587782082 GRCh37: 17:7577536-7577536
GRCh38: 17:7674218-7674218
33 TP53 NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) SNV Likely Pathogenic
 182935 rs730882005 GRCh37: 17:7577568-7577568
GRCh38: 17:7674250-7674250
34 TP53 NM_000546.6(TP53):c.405C>G (p.Cys135Trp) SNV Likely Pathogenic
 376561 rs1057519976 GRCh37: 17:7578525-7578525
GRCh38: 17:7675207-7675207
35 TP53 NM_000546.6(TP53):c.808T>A (p.Phe270Ile) SNV Likely Pathogenic
 376596 rs1057519988 GRCh37: 17:7577130-7577130
GRCh38: 17:7673812-7673812
36 TP53 NM_000546.6(TP53):c.487T>C (p.Tyr163His) SNV Likely Pathogenic
 376680 rs786203436 GRCh37: 17:7578443-7578443
GRCh38: 17:7675125-7675125
37 TP53 NM_000546.6(TP53):c.721T>G (p.Ser241Ala) SNV Likely Pathogenic
 376665 rs1057520002 GRCh37: 17:7577560-7577560
GRCh38: 17:7674242-7674242
38 TP53 NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) SNV Likely Pathogenic
 141762 rs587781991 GRCh37: 17:7578526-7578526
GRCh38: 17:7675208-7675208
39 TP53 NM_000546.6(TP53):c.585C>G (p.Ile195Met) SNV Likely Pathogenic
 376620 rs1057519994 GRCh37: 17:7578264-7578264
GRCh38: 17:7674946-7674946
40 TP53 NM_000546.6(TP53):c.578A>T (p.His193Leu) SNV Likely Pathogenic
 185822 rs786201838 GRCh37: 17:7578271-7578271
GRCh38: 17:7674953-7674953
41 PIK3CA NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) SNV Likely Pathogenic
 31944 rs121913273 GRCh37: 3:178936082-178936082
GRCh38: 3:179218294-179218294
42 TP53 NM_000546.6(TP53):c.809T>C (p.Phe270Ser) SNV Likely Pathogenic
 376594 rs1057519986 GRCh37: 17:7577129-7577129
GRCh38: 17:7673811-7673811
43 TP53 NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) SNV Likely Pathogenic
 376690 rs587780073 GRCh37: 17:7577580-7577580
GRCh38: 17:7674262-7674262
44 TP53 NM_000546.6(TP53):c.451C>T (p.Pro151Ser) SNV Likely Pathogenic
 12370 rs28934874 GRCh37: 17:7578479-7578479
GRCh38: 17:7675161-7675161
45 TP53 NM_000546.6(TP53):c.856G>A (p.Glu286Lys) SNV Likely Pathogenic
 183752 rs786201059 GRCh37: 17:7577082-7577082
GRCh38: 17:7673764-7673764
46 TP53 NM_000546.6(TP53):c.712T>G (p.Cys238Gly) SNV Likely Pathogenic
 376577 rs1057519981 GRCh37: 17:7577569-7577569
GRCh38: 17:7674251-7674251
47 TP53 NM_000546.6(TP53):c.646G>T (p.Val216Leu) SNV Likely Pathogenic
 376670 rs730882025 GRCh37: 17:7578203-7578203
GRCh38: 17:7674885-7674885
48 TP53 NM_000546.6(TP53):c.709A>G (p.Met237Val) SNV Likely Pathogenic
 182934 rs730882004 GRCh37: 17:7577572-7577572
GRCh38: 17:7674254-7674254
49 TP53 NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) SNV Likely Pathogenic
 127820 rs587780073 GRCh37: 17:7577580-7577580
GRCh38: 17:7674262-7674262
50 TP53 NM_000546.6(TP53):c.578A>C (p.His193Pro) SNV Likely Pathogenic
 376612 rs786201838 GRCh37: 17:7578271-7578271
GRCh38: 17:7674953-7674953

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

73
# 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:

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

Copy number variations for Esophageal Cancer from CNVD:

6 (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
Sources

Expression for Esophageal Cancer

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Search GEO for disease gene expression data for Esophageal Cancer.
Sources

Pathways for Esophageal Cancer

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Pathways directly related to Esophageal Cancer:

# Pathway Source
1 Gain-of-function MRAS complexes activate RAF signaling Reactome 66
2 Signaling by MRAS-complex mutants Reactome 66

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

# Super pathways Score Top Affiliating Genes
1
Epithelial to mesenchymal transition in colorectal cancer 74
11.46 ZEB2 ZEB1 TP53 TGFBR2
2
miRNAs involved in DNA damage response 74
11.26 TP53 MIR373 MIR21
3
Interactions between immune cells and microRNAs in tumor microenvironment 74
11.01 TGFBR2 MIR34A MIR21
4
miRNAs involvement in the immune response in sepsis 74
10.72 MIR21 MIR16-2 MIR126 MIR106A
5
ncRNAs involved in STAT3 signaling in hepatocellular carcinoma 74
10.58 ZEB1 MIR21
Sources

GO Terms for Esophageal Cancer

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

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.73 MIR30E MIR21 MIR16-2 MIR148A MIR126 MIR106A
2 extracellular vesicle GO:1903561 9.1 MIR34A MIR30E MIR21 MIR148A MIR126 MIR106A

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

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 9.44 MIR373 MIR34A MIR30E MIR21 MIR16-2 MIR148A
2 negative regulation of vascular endothelial cell proliferation GO:1905563 9.43 MIR34A MIR30E MIR126
3 negative regulation of vascular endothelial growth factor production GO:1904046 9.33 MIR373 MIR34A MIR106A
4 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.26 MIR21 MIR148A MIR126 MIR106A

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 MIR126 MIR106A
2 mRNA base-pairing translational repressor activity GO:1903231 9.17 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
Sources

Sources for Esophageal Cancer

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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