ESCR
MCID: ESP021
MIFTS: 90

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 53 74 37 13 43 15 38
Esophageal Carcinoma 12 59 55 15 17 72
Esophageal Squamous Cell Carcinoma 59 74 6 17
Carcinoma of Esophagus 12 59 6
Esophageal Squamous Cell Carcinoma, Somatic 57 6
Esophageal Carcinoma, Somatic 57 6
Gastric Cardia Adenocarcinoma 74 72
Esophageal Neoplasms 44 72
Esophagus Cancer 12 53
Escc 59 74
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 72
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 59
Malignant Tumor of Abdominal Esophagus 12
Squamous Cell Carcinoma of Esophagus 72
Esophageal Epidermoid Carcinoma 59
Squamous Cell Esophageal Cancer 55
Malignant Neoplasm of Esophagus 72
Esophageal Cancer, Somatic 57
Ca Middle Third Oesophagus 12
Aerodigestive Tract Cancer 74
Ca Lower Third Oesophagus 12
Carcinoma of Oesophagus 12
Cancer of Oesophagus 12
Cancer of Esophagus 12
Cancer, Esophageal 40
Escr 74

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
somatic mutation
autosomal dominant


HPO:

32
esophageal cancer:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:1107 DOID:5041
OMIM 57 133239
KEGG 37 H00017
MeSH 44 D004938
ICD10 via Orphanet 34 C15.0 C15.1 C15.3 more
UMLS via Orphanet 73 C0014859 C0152018 C0279626 more
UMLS 72 C0014859 C0152018 C0153413 more

Summaries for Esophageal Cancer

NIH Rare Diseases : 53 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 adenocarcinoma and esophageal basaloid 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 MicroRNAs in cancer and Activation of cAMP-Dependent PKA. The drugs Iron and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include lymph node, lung and liver, 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)

MedlinePlus : 43 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 : 37
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 : 74 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 : 75 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 846)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 34.4 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
2 esophageal basaloid squamous cell carcinoma 34.0 WWOX TP53 EGFR CTNNB1
3 squamous cell carcinoma 33.4 WWOX TP53 TGFBR2 SMAD4 RNF6 PIK3CA
4 esophageal disease 32.8 WWOX TP53 ERBB2 EGFR
5 gastric cancer 32.7 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
6 in situ carcinoma 32.5 TP53 ERBB2 EGFR
7 glioblastoma multiforme 32.5 TP53 PIK3CA MIR21 ERBB2 EGFR
8 glioblastoma 32.4 TP53 PIK3CA MIR34A MIR21 HRAS ERBB2
9 adenosquamous carcinoma 32.4 TP53 PIK3CA KRAS EGFR
10 breast cancer 32.2 WWOX TP53 TGFBR2 SMAD4 PIK3CA MIR373
11 cholangiocarcinoma 32.1 TP53 SMAD4 PIK3CA MIR373 MIR21 MIR148A
12 lung cancer 32.1 TP53 TGFBR2 PIK3CA MIR34A MIR21 MIR148A
13 intrahepatic cholangiocarcinoma 32.1 TP53 KRAS EGFR CTNNB1
14 colorectal cancer 32.1 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
15 exanthem 32.1 KRAS HRAS ERBB2 EGFR
16 oral cancer 32.0 TP53 MIR21 EGFR
17 hepatocellular carcinoma 32.0 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
18 endometrial adenocarcinoma 32.0 TP53 KRAS ERBB2 EGFR CTNNB1
19 barrett's adenocarcinoma 32.0 TP53 KRAS ERBB2
20 gallbladder cancer 32.0 TP53 PIK3CA KRAS ERBB2 EGFR
21 carcinosarcoma 31.9 TP53 PIK3CA KRAS HRAS ERBB2 CTNNB1
22 prostate cancer 31.9 TP53 PIK3CA MIR34A MIR21 MIR148A MIR126
23 esophagus adenocarcinoma 31.9 TP53 SMAD4 MIR21 ERBB2
24 gastric adenocarcinoma 31.9 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
25 lung cancer susceptibility 3 31.9 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
26 ovarian cancer 31.9 TP53 PIK3CA MIR21 MIR126 KRAS ERBB2
27 squamous cell carcinoma, head and neck 31.8 TP53 SMAD4 PIK3CA MIR373 MIR21 MIR148A
28 pancreatic cancer 31.8 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
29 glioma 31.8 TP53 PIK3CA MIR34A MIR21 ERBB2 EGFR
30 bladder cancer 31.8 TP53 MIR21 KRAS HRAS ERBB2 EGFR
31 adenoid cystic carcinoma 31.7 TP53 PIK3CA KRAS HRAS ERBB2 CTNNB1
32 gastrointestinal system disease 31.7 WWOX TP53 KRAS HRAS ERBB2 EGFR
33 familial adenomatous polyposis 31.7 TP53 SMAD4 KRAS CTNNB1
34 adenoma 31.7 TP53 TGFBR2 SMAD4 KRAS CTNNB1
35 oral cavity cancer 31.7 TP53 PIK3CA ERBB2 EGFR
36 laryngeal squamous cell carcinoma 31.7 TP53 MIR21 EGFR
37 gastrointestinal system cancer 31.6 WWOX TP53 SMAD4 PIK3CA KRAS HRAS
38 lynch syndrome 31.6 TP53 TGFBR2 KRAS EGFR CTNNB1
39 pancreas disease 31.6 TP53 SMAD4 KRAS HRAS
40 melanoma, cutaneous malignant 1 31.6 TP53 PIK3CA HRAS CTNNB1
41 medulloblastoma 31.5 TP53 PIK3CA MIR34A ERBB2 EGFR CTNNB1
42 endometrial cancer 31.5 TP53 TGFBR2 PIK3CA KRAS HRAS ERBB2
43 leukemia, acute myeloid 31.5 TP53 MIR21 MIR126 KRAS HRAS
44 skin squamous cell carcinoma 31.5 TP53 PIK3CA HRAS
45 kidney cancer 31.5 TP53 MIR21 MIR126 MIR106A
46 cervical cancer 31.5 TP53 SMAD4 PIK3CA MIR21 HRAS ERBB2
47 brain cancer 31.5 TP53 PIK3CA HRAS EGFR CTNNB1
48 small cell cancer of the lung 31.4 TP53 PIK3CA MIR21 EGFR
49 intestinal disease 31.4 TP53 PIK3CA KRAS HRAS EGFR CTNNB1
50 colorectal adenocarcinoma 31.4 TP53 KRAS HRAS EGFR CTNNB1

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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
2 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
3 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
4 esophageal carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0011459
5 clinodactyly of the 5th toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001864
6 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
7 recurrent singultus 59 32 frequent (33%) Frequent (79-30%) HP:0100247
8 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
9 cough 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0012735
10 chest pain 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0100749
11 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001608
12 abnormality of the neck 59 32 frequent (33%) Frequent (79-30%) HP:0000464
13 lymphadenopathy 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0002716
14 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
15 barrett esophagus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100580
16 abnormal intestine morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002242
17 esophageal neoplasm 59 Very frequent (99-80%)
18 squamous cell carcinoma 32 HP:0002860

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
esophageal cancer
esophageal squamous cell carcinoma

Clinical features from OMIM:

133239

UMLS symptoms related to Esophageal Cancer:


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

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.69 EGFR HRAS KRAS PIK3CA
2 Decreased viability GR00106-A-0 10.69 KRAS
3 Decreased viability GR00107-A-1 10.69 TGFBR2
4 Decreased viability GR00221-A-1 10.69 EGFR HRAS KRAS PIK3CA TGFBR2
5 Decreased viability GR00221-A-2 10.69 HRAS KRAS PIK3CA DCC
6 Decreased viability GR00221-A-3 10.69 HRAS TGFBR2 DCC ERBB2
7 Decreased viability GR00221-A-4 10.69 EGFR PIK3CA TGFBR2 DCC ERBB2
8 Decreased viability GR00301-A 10.69 KRAS
9 Decreased viability GR00381-A-1 10.69 KRAS
10 Decreased viability GR00402-S-2 10.69 EGFR HRAS KRAS PIK3CA TGFBR2 DCC
11 Decreased cell migration GR00055-A-1 9.65 CTNNB1 EGFR HRAS KRAS PIK3CA
12 Increased cell death HMECs cells GR00103-A-0 9.43 CTNNB1 EGFR PIK3CA TGFBR2 TP53 WWOX
13 Increased cell migration GR00055-A-3 9.02 CTNNB1 EGFR HRAS KRAS PIK3CA

MGI Mouse Phenotypes related to Esophageal Cancer:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 CTNNB1 DCC EGFR ERBB2 KRAS LZTS1
2 endocrine/exocrine gland MP:0005379 10.18 CTNNB1 EGFR ERBB2 HRAS KRAS PIK3CA
3 digestive/alimentary MP:0005381 10.16 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
4 neoplasm MP:0002006 10.15 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
5 craniofacial MP:0005382 10.13 CTNNB1 EGFR ERBB2 HRAS KRAS SMAD4
6 embryo MP:0005380 10.1 CTNNB1 EGFR ERBB2 KRAS PIK3CA SMAD4
7 nervous system MP:0003631 10.1 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
8 integument MP:0010771 10.06 CTNNB1 EGFR ERBB2 HRAS KRAS PIK3CA
9 muscle MP:0005369 10.01 CTNNB1 EGFR ERBB2 KRAS PIK3CA SMAD4
10 liver/biliary system MP:0005370 9.98 CTNNB1 EGFR KRAS SMAD4 TGFBR2 TP53
11 no phenotypic analysis MP:0003012 9.8 CTNNB1 EGFR HRAS KRAS PIK3CA TP53
12 respiratory system MP:0005388 9.56 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
13 pigmentation MP:0001186 9.55 CTNNB1 DCC EGFR KRAS TP53
14 skeleton MP:0005390 9.32 CTNNB1 EGFR ERBB2 HRAS KRAS PIK3CA

Drugs & Therapeutics for Esophageal Cancer

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

(show top 50) (show all 517)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
2
Pravastatin Approved Phase 4 81093-37-0 54687
3
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
4
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
5
tannic acid Approved Phase 4 1401-55-4
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Nicotine Approved Phase 4 54-11-5 942 89594
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Norepinephrine Approved Phase 4 51-41-2 439260
12
Phenylephrine Approved Phase 4 59-42-7 6041
13
Dobutamine Approved Phase 4 34368-04-2 36811
14
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
15
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
16
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
17
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
18 Ferric Compounds Phase 4
19
Apatinib Phase 4 811803-05-1
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Central Nervous System Stimulants Phase 4
22 Gastrointestinal Agents Phase 4
23 Neurotransmitter Agents Phase 4
24 Neuromuscular Agents Phase 4
25 Anesthetics Phase 4
26 Nicotinic Agonists Phase 4
27 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
28 Dopamine Agents Phase 4
29 Dopamine Uptake Inhibitors Phase 4
30 Vasoconstrictor Agents Phase 4
31 Antacids Phase 4
32 Proton Pump Inhibitors Phase 4
33 Anti-Ulcer Agents Phase 4
34 Adrenergic alpha-2 Receptor Agonists Phase 4
35 Adrenergic Agonists Phase 4
36 Adrenergic alpha-Agonists Phase 4
37 Hypnotics and Sedatives Phase 4
38 Adrenergic Agents Phase 4
39 Neuromuscular Nondepolarizing Agents Phase 4
40 Neuromuscular Blocking Agents Phase 4
41
Menthol Approved Phase 3 2216-51-5 16666
42
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
43
nivolumab Approved Phase 2, Phase 3 946414-94-4
44
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
45
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
46
Ipilimumab Approved Phase 2, Phase 3 477202-00-9
47
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
48
Nedaplatin Approved, Investigational Phase 3 95734-82-0
49
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
50
Chlorpheniramine Approved Phase 3 132-22-9, 113-92-8 2725

Interventional clinical trials:

(show top 50) (show all 1503)
# 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 Postoperative Pain Management After Minimally Invasive Esophagectomy Unknown status NCT02042313 Phase 4
4 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
5 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
6 Intrathoracic Esophagogastric Anastomosis After Robot Assisted Minimally Invasive Esophagectomy Using STRATAFIX Unknown status NCT02609425 Phase 4
7 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
8 Study of the Relationship Between the Rate of Residual Platinum in the Blood and the Incidence of Persistent Neurotoxicity in Patients Treated for Gastrointestinal Cancer With Oxaliplatin Unknown status NCT00274885 Phase 4 oxaliplatin
9 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
10 Study of Predictive Proteomic Factors of the Response to Exclusive Concomitant Radiochemotherapy in Oesophageal Cancer Completed NCT00911092 Phase 4 Chemotherapy (Fluorouracil and Cisplatin)
11 Effect of Enteral Immunonutrition During Chemoradiotherapy in Patients With Head and Neck Cancer or Esophageal Cancer Completed NCT00333099 Phase 4
12 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
13 Ablation of Gastric Dysplastic Mucosa by a Novel Endoscopic Radiofrequency Device. Completed NCT01523912 Phase 4
14 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
15 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
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 Randomised Trial of the Effects of Individual Nutritional Counseling in Cancer Patients Completed NCT01962272 Phase 4
18 The Effects of Dexmedetomidine on Inflammatory Mediators After One Lung Ventilation During Video-assisted Thoracoscopic Surgery Completed NCT02439905 Phase 4 Dexmedetomidine;Placebo control
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 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
21 Phase III: The Study of Acid Reflux in Children With Asthma Completed NCT00442013 Phase 4 Lansoprazole;Matching placebo
22 Pioneering Pre- and Post-Operative Integrative Care to Improve Thoracic Cancer Quality of Care: The Thoracic Peri-Operative Integrative Surgical Care Evaluation (POISE) Trial- Stage I Recruiting NCT02845479 Phase 4
23 A Pilot Trial of Perioperative Genotype-Guided Irinotecan Dosing of mFOLFIRINOX for Locally Advanced Gastroesophageal Adenocarcinoma Recruiting NCT02366819 Phase 4 Oxaliplatin;Leucovorin Calcium;Irinotecan Hydrochloride;Fluorouracil
24 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 Enrolling by invitation NCT03642093 Phase 4
25 Multicenter Comparative of Toxicity and Effectiveness of Lobaplation or Cisplatin Based Adjuvant Chemotherapy in Esophageal Carcinoma Not yet recruiting NCT03413436 Phase 4 Lobaplatin;Cisplatin
26 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
27 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
28 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
29 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
30 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
31 Chemoprevention of Esophageal Squamous Cell Carcinoma With Aspirin and Tea Polyphenols: a Randomized Controlled Trial. Unknown status NCT01496521 Phase 3 Aspirin
32 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
33 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
34 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
35 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
36 Self-Expandable Esophageal Radiation Stent:a Multicentric Randomized Controlled Trial in Patients With Advanced Esophageal Cancer Unknown status NCT01054274 Phase 3
37 Three Field Radical Esophagectomy Versus Two Field Esophagectomy - a Prospective Trial Unknown status NCT00193817 Phase 3
38 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
39 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
40 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
41 Early Palliative Care With Standard Oncology Care Versus Standard Oncology Care Alone in Metastatic Esophageal Squamous Carcinoma (ESCC) and Gastric Cancer Unknown status NCT02375997 Phase 3
42 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
43 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
44 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
45 Efficacy of Nasogastric Tube Application in Postoperative Care of Esophagectomy: a Randomized Clinical Trial Unknown status NCT03273686 Phase 3
46 A PROSPECTIVE RANDOMISED TRIAL OF INDUCTION CHEMOTHERAPY WITH 5-FU CONTINUOUS IV INFUSION AND CISPLATIN VERSUS SURGERY IN RESECTABLE ADENOCARCINOMA OF THE LOW THIRD OF THE ESOPHAGUS AND CARDIOESOPHAGEAL JUNCTION Unknown status NCT00002883 Phase 3 cisplatin;fluorouracil
47 A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett's Metaplasia Unknown status NCT00357682 Phase 3 Esomeprazole;Esomeprazole;Aspirin
48 The Effects of Gastric Tube on the Quality of Life and Nutritional Status After Ivor-Lewis Esophagectomy: A Randomized Control Trial and Physiological Study Unknown status NCT01361750 Phase 3
49 The Comparison of Value of Brachytherapy and Endoscopic Stenting With SEMS in Palliative Treatment of Dysphagia Resulting From Adenocarcinoma of the Esophago-Gastric Junction Unknown status NCT01786278 Phase 2, Phase 3
50 Impact of Widths After Gastric Tube Reconstruction on Quality of Life for Patients With Esophagogastric Cancers Unknown status NCT01911832 Phase 3

Search NIH Clinical Center for Esophageal Cancer

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Capecitabine
Carboplatin
Cisplatin
Cisplatin
CISPLATIN PWDR
Docetaxel
Irinotecan
Methotrexate
Methotrexate Sodium
Oxaliplatin
Paclitaxel
Porfimer sodium
PROFIMER SODIUM
Vinorelbine

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

Anatomical Context for Esophageal Cancer

MalaCards organs/tissues related to Esophageal Cancer:

41
Lymph Node, Lung, Liver, T Cells, Testes, Colon, Bone

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

19
Esophagus

Publications for Esophageal Cancer

Articles related to Esophageal Cancer:

(show top 50) (show all 21538)
# Title Authors PMID Year
1
Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma. 8 71
12154016 2002
2
Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma. 8 71
11956080 2002
3
The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. 8 71
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. 38 8
16799631 2007
5
An LOH and mutational investigation of the ST7 gene locus in human esophageal carcinoma. 38 8
12545169 2003
6
Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. 38 8
11078757 2000
7
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. 38 8
10841811 2000
8
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 9 71
10789724 2000
9
Identification of novel regions of allelic loss from a genomewide scan of esophageal squamous-cell carcinoma in a high-risk Chinese population. 38 8
10679910 2000
10
Frequent loss of heterozygosity at the retinoblastoma locus in human esophageal cancers. 38 8
1913694 1991
11
The association between statin use and survival of esophageal cancer patients: A systematic review and meta-analysis. 38 17
31335710 2019
12
Integrated genomic characterization of oesophageal carcinoma. 8
28052061 2017
13
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 8
22960999 2012
14
MiRNAs and their association with locoregional staging and survival following surgery for esophageal carcinoma. 38 88
20628822 2011
15
Prognostic significance of differentially expressed miRNAs in esophageal cancer. 38 88
20309880 2011
16
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 8
20729852 2010
17
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. 8
20729853 2010
18
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 8
19801978 2009
19
MicroRNA expression in squamous cell carcinoma and adenocarcinoma of the esophagus: associations with survival. 38 88
19789312 2009
20
MicroRNA-373 (miR-373) post-transcriptionally regulates large tumor suppressor, homolog 2 (LATS2) and stimulates proliferation in human esophageal cancer. 38 88
19501585 2009
21
Multiple roles for Sox2 in the developing and adult mouse trachea. 8
19403656 2009
22
Gene deletion of inositol hexakisphosphate kinase 2 predisposes to aerodigestive tract carcinoma. 8
19430495 2009
23
MicroRNA expression profiles of esophageal cancer. 38 88
18242245 2008
24
Distinctive microRNA profiles relating to patient survival in esophageal squamous cell carcinoma. 38 88
18172293 2008
25
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. 8
17522155 2007
26
Loss of RUNX3 expression significantly affects the clinical outcome of gastric cancer patients and its restoration causes drastic suppression of tumor growth and metastasis. 8
15930301 2005
27
Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours. 8
14520411 2003
28
Causal relationship between the loss of RUNX3 expression and gastric cancer. 8
11955451 2002
29
Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma. 8
11433530 2001
30
Accumulation of genetic alterations during esophageal carcinogenesis. 8
7874113 1994
31
Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis. 71
8187090 1994
32
Loss of heterozygosity involving the APC and MCC genetic loci occurs in the majority of human esophageal cancers. 8
1565631 1992
33
17p allelic deletions and p53 protein overexpression in Barrett's adenocarcinoma. 8
1680552 1991
34
Frequent loss of heterozygosity on chromosomes 1q, 5q, and 17p in human gastric carcinomas. 8
2032230 1991
35
Oesophageal cancer: risks, prevention, and diagnosis. 17
31289038 2019
36
A study on the correlation between radiation field size and gamma index passing rate for MatriXX. 17
31348271 2019
37
Heparanase expression by Barrett's epithelium and during esophageal carcinoma progression. 9 38
19749739 2009
38
Aberrant promoter methylation and reduced expression of p16 gene in esophageal squamous cell carcinoma from Kashmir valley: a high-risk area. 9 38
19513816 2009
39
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. 9 38
19363469 2009
40
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 9 38
19259700 2009
41
Activation of NFAT signal by p53-K120R mutant. 9 38
19416725 2009
42
p53 Arg72Pro and MDM2 T309G polymorphisms, histology, and esophageal cancer prognosis. 9 38
19383811 2009
43
Krüppel-like factor 4 represses transcription of the survivin gene in esophageal cancer cell lines. 9 38
19361279 2009
44
Association studies of CYP1A1 and GSTM1 polymorphisms with esophageal cancer risk: evidence-based meta-analyses. 9 38
19427967 2009
45
MicroRNA-21 regulates the proliferation and invasion in esophageal squamous cell carcinoma. 88
19276261 2009
46
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. 9 38
18571622 2008
47
Activin A enhances MMP-7 activity via the transcription factor AP-1 in an esophageal squamous cell carcinoma cell line. 9 38
18695873 2008
48
[Construction of a siRNA vector targeting human MTA1 gene and the gene-silencing effect]. 9 38
18359692 2008
49
Interplay between oncoproteins and antioxidant enzymes in esophageal carcinoma treated without and with chemoradiotherapy: a prospective study. 9 38
18207033 2008
50
Activin a causes cancer cell aggressiveness in esophageal squamous cell carcinoma cells. 9 38
17909904 2008

Variations for Esophageal Cancer

ClinVar genetic disease variations for Esophageal Cancer:

6 (show top 50) (show all 257)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.832C> A (p.Pro278Thr) single nucleotide variant Likely pathogenic,drug response rs17849781 17:7577106-7577106 17:7673788-7673788
2 TP53 NM_000546.5(TP53): c.818G> T (p.Arg273Leu) single nucleotide variant Pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
3 TP53 NM_000546.5(TP53): c.517G> T (p.Val173Leu) single nucleotide variant Pathogenic rs876660754 17:7578413-7578413 17:7675095-7675095
4 TP53 NM_000546.5(TP53): c.537T> G (p.His179Gln) single nucleotide variant Pathogenic rs876660821 17:7578393-7578393 17:7675075-7675075
5 TP53 NM_000546.5(TP53): c.712T> C (p.Cys238Arg) single nucleotide variant Pathogenic rs1057519981 17:7577569-7577569 17:7674251-7674251
6 TP53 NM_000546.5(TP53): c.713G> T (p.Cys238Phe) single nucleotide variant Pathogenic rs730882005 17:7577568-7577568 17:7674250-7674250
7 LZTS1 NM_021020.5(LZTS1): c.85T> C (p.Ser29Pro) single nucleotide variant Pathogenic rs28937897 8:20112608-20112608 8:20255097-20255097
8 LZTS1 NM_021020.5(LZTS1): c.355A> G (p.Lys119Glu) single nucleotide variant Pathogenic rs119473032 8:20111087-20111087 8:20253576-20253576
9 WWOX NM_016373.4(WWOX): c.872T> C (p.Leu291Pro) single nucleotide variant Pathogenic rs119487098 16:78466465-78466465 16:78432568-78432568
10 RNF6 NM_005977.4(RNF6): c.305G> A (p.Arg102Lys) single nucleotide variant Pathogenic rs121434522 13:26789714-26789714 13:26215577-26215577
11 RNF6 NM_005977.4(RNF6): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121434523 13:26789295-26789295 13:26215158-26215158
12 RNF6 NM_005977.4(RNF6): c.731G> A (p.Gly244Asp) single nucleotide variant Pathogenic rs121434524 13:26789288-26789288 13:26215151-26215151
13 SMAD4 NM_005359.5(SMAD4): c.1081C> T (p.Arg361Cys) single nucleotide variant Pathogenic rs80338963 18:48591918-48591918 18:51065548-51065548
14 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 17:7577539-7577539 17:7674221-7674221
15 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 17:7577548-7577548 17:7674230-7674230
16 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 17:7577556-7577556 17:7674238-7674238
17 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 17:7577547-7577547 17:7674229-7674229
18 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 17:7577548-7577548 17:7674230-7674230
19 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 17:7578406-7578406 17:7675088-7675088
20 TGFBR2 NM_003242.6(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 3:30729962-30729962 3:30688470-30688470
21 HRAS NM_005343.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
22 HRAS NM_005343.4(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 11:534288-534288 11:534288-534288
23 HRAS NM_005343.4(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 11:534289-534289 11:534289-534289
24 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
25 PIK3CA NM_006218.4(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 3:178952085-178952085 3:179234297-179234297
26 PIK3CA NM_006218.4(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 3:178936092-178936092 3:179218304-179218304
27 DCC NM_005215.4(DCC): c.503T> C (p.Met168Thr) single nucleotide variant Pathogenic rs121912967 18:50432504-50432504 18:52906134-52906134
28 SMAD4 NM_005359.5(SMAD4): c.1082G> A (p.Arg361His) single nucleotide variant Pathogenic rs377767347 18:48591919-48591919 18:51065549-51065549
29 PIK3CA NM_006218.4(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 3:178952084-178952084 3:179234296-179234296
30 EGFR NM_005228.5(EGFR): c.2303G> T (p.Ser768Ile) single nucleotide variant Pathogenic rs121913465 7:55249005-55249005 7:55181312-55181312
31 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 17:7578211-7578211 17:7674893-7674893
32 TP53 NM_000546.5(TP53): c.844C> G (p.Arg282Gly) single nucleotide variant Pathogenic rs28934574 17:7577094-7577094 17:7673776-7673776
33 TP53 NM_000546.5(TP53): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic rs148924904 17:7578442-7578442 17:7675124-7675124
34 TP53 NM_000546.5(TP53): c.856G> A (p.Glu286Lys) single nucleotide variant Pathogenic rs786201059 17:7577082-7577082 17:7673764-7673764
35 TP53 NM_000546.5(TP53): c.584T> C (p.Ile195Thr) single nucleotide variant Pathogenic rs760043106 17:7578265-7578265 17:7674947-7674947
36 TP53 NM_000546.5(TP53): c.833C> T (p.Pro278Leu) single nucleotide variant Pathogenic rs876659802 17:7577105-7577105 17:7673787-7673787
37 WWOX NM_016373.4(WWOX): c.790C> T (p.Arg264Ter) single nucleotide variant Pathogenic rs756762196 16:78458951-78458951 16:78425054-78425054
38 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
39 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 17:7577114-7577114 17:7673796-7673796
40 TP53 NM_000546.5(TP53): c.517G> A (p.Val173Met) single nucleotide variant Pathogenic/Likely pathogenic rs876660754 17:7578413-7578413 17:7675095-7675095
41 TP53 NM_000546.5(TP53): c.638G> C (p.Arg213Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 17:7578211-7578211 17:7674893-7674893
42 PIK3CA NM_006218.4(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 3:178936093-178936093 3:179218305-179218305
43 TP53 NM_000546.5(TP53): c.527G> A (p.Cys176Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs786202962 17:7578403-7578403 17:7675085-7675085
44 TP53 NM_000546.5(TP53): c.535C> T (p.His179Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587780070 17:7578395-7578395 17:7675077-7675077
45 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 17:7577580-7577580 17:7674262-7674262
46 PIK3CA NM_006218.4(PIK3CA): c.1624G> A (p.Glu542Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913273 3:178936082-178936082 3:179218294-179218294
47 CTNNB1 NM_001904.4(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 3:41266101-41266101 3:41224610-41224610
48 CTNNB1 NM_001904.4(CTNNB1): c.110C> G (p.Ser37Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 3:41266113-41266113 3:41224622-41224622
49 CTNNB1 NM_001904.4(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 3:41266101-41266101 3:41224610-41224610
50 CTNNB1 NM_001904.4(CTNNB1): c.110C> T (p.Ser37Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913403 3:41266113-41266113 3:41224622-41224622

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

74
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Glu526Gln VAR_015816 rs121918714

Cosmic variations for Esophageal Cancer:

9 (show top 50) (show all 11258)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6338482 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.5662G>A p.E1888K 16:72797020-72797020 24
2 COSM6966452 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.9380C>T p.P3127L 16:72793302-72793302 24
3 COSM6933129 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.2968C>T p.R990C 16:72950717-72950717 24
4 COSM6980214 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.8191C>T p.R2731W 16:72794491-72794491 24
5 COSM6956762 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.9433A>C p.T3145P 16:72788843-72788843 24
6 COSM6933128 ZFHX3 oesophagus,lower third,carcinoma,adenocarcinoma c.9908T>G p.L3303R 16:72788368-72788368 24
7 COSM6906768 WT1 oesophagus,lower third,carcinoma,adenocarcinoma c.293G>T p.G98V 11:32434849-32434849 24
8 COSM21434 WT1 oesophagus,lower third,carcinoma,adenocarcinoma c.1181G>A p.R394Q 11:32392019-32392019 24
9 COSM6947912 VEGFA oesophagus,lower third,carcinoma,adenocarcinoma c.974G>A p.R325Q 6:43780743-43780743 24
10 COSM6910626 TSC2 oesophagus,lower third,carcinoma,adenocarcinoma c.523G>C p.E175Q 16:2055443-2055443 24
11 COSM6916286 TSC2 oesophagus,lower third,carcinoma,adenocarcinoma c.5384G>A p.R1795H 16:2088570-2088570 24
12 COSM6947290 TSC1 oesophagus,lower third,carcinoma,adenocarcinoma c.3262C>G p.L1088V 9:132896468-132896468 24
13 COSM3278464 TRAF7 oesophagus,lower third,carcinoma,adenocarcinoma c.211C>T p.R71W 16:2168148-2168148 24
14 COSM10648 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.524G>A p.R175H 17:7675088-7675088 24
15 COSM10726 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.856G>A p.E286K 17:7673764-7673764 24
16 COSM6932 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.733G>A p.G245S 17:7674230-7674230 24
17 COSM10656 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.742C>T p.R248W 17:7674221-7674221 24
18 COSM10790 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.455C>T p.P152L 17:7675157-7675157 24
19 COSM43951 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.643A>G p.S215G 17:7674888-7674888 24
20 COSM44290 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.763A>G p.I255V 17:7674200-7674200 24
21 COSM10704 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.844C>T p.R282W 17:7673776-7673776 24
22 COSM10660 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.818G>A p.R273H 17:7673802-7673802 24
23 COSM11781 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.398T>A p.M133K 17:7675214-7675214 24
24 COSM11374 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.752T>A p.I251N 17:7674211-7674211 24
25 COSM10867 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.797G>A p.G266E 17:7673823-7673823 24
26 COSM10672 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.577C>T p.H193Y 17:7674954-7674954 24
27 COSM43898 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.485T>G p.I162S 17:7675127-7675127 24
28 COSM44192 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.272G>A p.W91* 17:7676097-7676097 24
29 COSM44654 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.400T>C p.F134L 17:7675212-7675212 24
30 COSM44672 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.658T>A p.Y220N 17:7674873-7674873 24
31 COSM11183 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.799C>T p.R267W 17:7673821-7673821 24
32 COSM44271 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.688A>C p.T230P 17:7674275-7674275 24
33 COSM44291 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.393C>G p.N131K 17:7675219-7675219 24
34 COSM44948 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.526T>C p.C176R 17:7675086-7675086 24
35 COSM45475 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.541C>G p.R181G 17:7675071-7675071 24
36 COSM43968 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.866T>C p.L289P 17:7673754-7673754 24
37 COSM45883 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.470T>C p.V157A 17:7675142-7675142 24
38 COSM43684 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.720T>G p.S240R 17:7674243-7674243 24
39 COSM43730 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.398T>G p.M133R 17:7675214-7675214 24
40 COSM43568 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.772G>T p.E258* 17:7674191-7674191 24
41 COSM12296 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.292C>T p.P98S 17:7676077-7676077 24
42 COSM43958 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.843C>T p.D281D 17:7673777-7673777 24
43 COSM11090 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.541C>T p.R181C 17:7675071-7675071 24
44 COSM43679 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.531C>T p.P177P 17:7675081-7675081 24
45 COSM43692 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.460G>A p.G154S 17:7675152-7675152 24
46 COSM44063 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.389T>G p.L130R 17:7675223-7675223 24
47 COSM43669 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.529C>A p.P177T 17:7675083-7675083 24
48 COSM43766 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.899C>T p.P300L 17:7673721-7673721 24
49 COSM43683 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.758C>T p.T253I 17:7674205-7674205 24
50 COSM11483 TP53 oesophagus,lower third,carcinoma,adenocarcinoma c.848G>A p.R283H 17:7673772-7673772 24

Copy number variations for Esophageal Cancer from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32702 1 39027237 40780163 Amplification MYCL1 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 LARGE 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 EVI1 Esophageal cancer
39 171491 3 168867391 169381563 Amplification MDS1 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 MINA 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:

37
# Name Kegg Source Accession
1 MicroRNAs in cancer hsa05206

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

(show top 50) (show all 91)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 TGFBR2 SMAD4 KRAS HRAS ERBB2 EGFR
2
Show member pathways
13.59 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
3
Show member pathways
13.56 SMAD4 PIK3CA KRAS HRAS ERBB2 EGFR
4
Show member pathways
13.35 TGFBR2 SMAD4 KRAS HRAS ERBB2 EGFR
5
Show member pathways
13.06 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
6
Show member pathways
13.04 TP53 SMAD4 PIK3CA KRAS HRAS EGFR
7
Show member pathways
13.01 TP53 PIK3CA KRAS HRAS EGFR CTNNB1
8
Show member pathways
12.97 TGFBR2 PIK3CA KRAS HRAS ERBB2 EGFR
9
Show member pathways
12.97 PIK3CA KRAS HRAS ERBB2 EGFR CTNNB1
10
Show member pathways
12.94 TGFBR2 PIK3CA KRAS HRAS ERBB2 EGFR
11 12.84 TP53 TGFBR2 KRAS HRAS ERBB2 EGFR
12
Show member pathways
12.81 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
13
Show member pathways
12.8 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
14
Show member pathways
12.79 PIK3CA KRAS HRAS EGFR CTNNB1
15
Show member pathways
12.79 TP53 PIK3CA KRAS HRAS ERBB2 CTNNB1
16
Show member pathways
12.78 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
17
Show member pathways
12.77 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
18
Show member pathways
12.73 PIK3CA KRAS HRAS EGFR CTNNB1
19 12.68 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
20
Show member pathways
12.67 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
21
Show member pathways
12.67 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
22
Show member pathways
12.58 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
23
Show member pathways
12.48 PIK3CA KRAS HRAS ERBB2 EGFR CTNNB1
24
Show member pathways
12.46 TP53 TGFBR2 PIK3CA KRAS HRAS ERBB2
25
Show member pathways
12.45 PIK3CA KRAS HRAS EGFR
26
Show member pathways
12.45 PIK3CA KRAS HRAS CTNNB1
27 12.41 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
28
Show member pathways
12.37 PIK3CA HRAS ERBB2 EGFR
29
Show member pathways
12.37 PIK3CA KRAS HRAS ERBB2 EGFR
30 12.35 TP53 PIK3CA KRAS HRAS
31 12.3 PIK3CA KRAS HRAS DCC
32
Show member pathways
12.29 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
33 12.26 TP53 TGFBR2 PIK3CA KRAS HRAS
34
Show member pathways
12.26 TP53 TGFBR2 PIK3CA KRAS HRAS
35
Show member pathways
12.25 KRAS HRAS EGFR CTNNB1
36 12.25 KRAS HRAS ERBB2 EGFR
37 12.24 TP53 TGFBR2 SMAD4 KRAS EGFR DCC
38
Show member pathways
12.22 PIK3CA KRAS HRAS ERBB2 EGFR
39 12.22 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
40 12.22 TP53 TGFBR2 SMAD4 KRAS EGFR CTNNB1
41
Show member pathways
12.21 TP53 PIK3CA KRAS HRAS
42
Show member pathways
12.19 TGFBR2 PIK3CA HRAS ERBB2 EGFR CTNNB1
43 12.18 SMAD4 PIK3CA KRAS HRAS CTNNB1
44
Show member pathways
12.16 TGFBR2 SMAD4 PIK3CA KRAS HRAS EGFR
45
Show member pathways
12.15 TGFBR2 SMAD4 PIK3CA KRAS HRAS EGFR
46
Show member pathways
12.13 KRAS HRAS ERBB2 EGFR
47 12.12 TP53 TGFBR2 SMAD4 CTNNB1
48
Show member pathways
12.12 TP53 KRAS HRAS EGFR
49
Show member pathways
12.11 TP53 PIK3CA ERBB2 EGFR
50 12.09 TP53 PIK3CA KRAS HRAS

GO Terms for Esophageal Cancer

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.92 KRAS HRAS ERBB2 EGFR
2 regulation of cell proliferation GO:0042127 9.86 TGFBR2 SMAD4 EGFR CTNNB1
3 lung development GO:0030324 9.82 TGFBR2 EGFR CTNNB1
4 negative regulation of angiogenesis GO:0016525 9.81 MIR34A MIR21 MIR16-2 CTNNB1
5 liver development GO:0001889 9.8 PIK3CA KRAS EGFR
6 positive regulation of protein phosphorylation GO:0001934 9.8 MIR21 KRAS HRAS ERBB2 EGFR
7 Ras protein signal transduction GO:0007265 9.79 TP53 KRAS HRAS
8 positive regulation of epithelial cell proliferation GO:0050679 9.78 HRAS ERBB2 EGFR
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 MIR21 MIR126 HRAS EGFR
10 positive regulation of protein kinase B signaling GO:0051897 9.77 PIK3CA MIR21 MIR126 ERBB2 EGFR
11 cellular response to growth factor stimulus GO:0071363 9.76 ERBB2 EGFR CTNNB1
12 miRNA mediated inhibition of translation GO:0035278 9.76 MIR21 MIR16-2 MIR148A MIR106A
13 cell proliferation GO:0008283 9.73 TP53 SMAD4 EGFR CTNNB1
14 ERBB2 signaling pathway GO:0038128 9.67 PIK3CA ERBB2 EGFR
15 secondary palate development GO:0062009 9.64 TGFBR2 SMAD4
16 positive regulation of connective tissue replacement GO:1905205 9.64 MIR34A MIR16-2
17 negative regulation of macroautophagy GO:0016242 9.63 PIK3CA LZTS1
18 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.62 TP53 EGFR
19 positive regulation of MAP kinase activity GO:0043406 9.62 KRAS HRAS ERBB2 EGFR
20 response to isolation stress GO:0035900 9.6 KRAS HRAS
21 endothelial tube morphogenesis GO:0061154 9.59 MIR21 CTNNB1
22 trachea formation GO:0060440 9.58 TGFBR2 CTNNB1
23 negative regulation of ERBB signaling pathway GO:1901185 9.57 ERBB2 EGFR
24 positive regulation of MAPK cascade GO:0043410 9.56 MIR126 HRAS ERBB2 CTNNB1
25 trachea morphogenesis GO:0060439 9.55 TGFBR2 CTNNB1
26 negative regulation of cell proliferation GO:0008285 9.5 TP53 TGFBR2 SMAD4 MIR21 MIR16-2 HRAS
27 positive regulation of epithelial to mesenchymal transition GO:0010718 9.46 TGFBR2 SMAD4 MIR21 CTNNB1
28 positive regulation of gene expression GO:0010628 9.17 TP53 MIR34A MIR21 KRAS HRAS ERBB2
29 gene silencing by miRNA GO:0035195 10.01 MIR34A MIR21 MIR16-2 MIR148A MIR126 MIR106A
30 positive regulation of cell proliferation GO:0008284 10 TGFBR2 MIR21 KRAS HRAS EGFR CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.77 TP53 SMAD4 ERBB2 EGFR CTNNB1
2 RNA polymerase II transcription factor binding GO:0001085 9.33 TP53 SMAD4 CTNNB1
3 I-SMAD binding GO:0070411 9.32 SMAD4 CTNNB1
4 protein phosphatase binding GO:0019903 9.26 TP53 ERBB2 EGFR CTNNB1
5 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR34A MIR21 MIR16-2 MIR148A MIR126 MIR106A
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 PIK3CA

Sources for Esophageal Cancer

3 CDC
7 CNVD
8