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 56 12 52 73 36 13 42 15 37
Esophageal Carcinoma 12 58 54 15 17 71
Esophageal Squamous Cell Carcinoma 58 73 6 17
Carcinoma of Esophagus 12 58 29 6
Esophageal Squamous Cell Carcinoma, Somatic 56 6
Esophageal Carcinoma, Somatic 56 6
Gastric Cardia Adenocarcinoma 73 71
Esophageal Neoplasms 43 71
Esophagus Cancer 12 52
Escc 58 73
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 71
Malignant Tumor of Proximal Third of Esophagus 12
Malignant Tumor of Distal Third of Esophagus 12
Malignant Neoplasm of Upper Third Esophagus 12
Squamous Cell Carcinoma of the Esophagus 58
Malignant Tumor of Abdominal Esophagus 12
Squamous Cell Carcinoma of Esophagus 71
Esophageal Epidermoid Carcinoma 58
Squamous Cell Esophageal Cancer 54
Malignant Neoplasm of Esophagus 71
Esophageal Cancer, Somatic 56
Ca Middle Third Oesophagus 12
Aerodigestive Tract Cancer 73
Ca Lower Third Oesophagus 12
Carcinoma of Oesophagus 12
Cancer of Oesophagus 12
Cancer of Esophagus 12
Cancer, Esophageal 39
Escr 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
somatic mutation
autosomal dominant


HPO:

31
esophageal cancer:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:1107 DOID:5041
OMIM 56 133239
KEGG 36 H00017
MeSH 43 D004938
ICD10 via Orphanet 33 C15.0 C15.1 C15.3 more
UMLS via Orphanet 72 C0014859 C0152018 C0279626 more
UMLS 71 C0014859 C0152018 C0153413 more

Summaries for Esophageal Cancer

NIH Rare Diseases : 52 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 squamous cell carcinoma, and has symptoms including nausea and vomiting, abdominal pain and constipation. 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 Pravastatin 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 feeding difficulties in infancy and dysphagia

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

OMIM : 56 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 : 42 The esophagus is a hollow tube that carries food and liquids from your throat to your stomach. Early esophageal cancer usually does not cause symptoms. Later, you may have symptoms such as Painful or difficult swallowing Weight loss A hoarse voice or cough that doesn't go away You're at greater risk for getting esophageal cancer if you smoke, drink heavily, or have acid reflux. Your risk also goes up as you age Your doctor uses imaging tests and a biopsy to diagnose esophageal cancer. Treatments include surgery, radiation, and chemotherapy. You might also need nutritional support, since the cancer or treatment may make it hard to swallow. NIH: National Cancer Institute

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

UniProtKB/Swiss-Prot : 73 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 : 74 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 976)
# Related Disease Score Top Affiliating Genes
1 adenocarcinoma 34.4 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
2 squamous cell carcinoma 33.5 WWOX TP53 TGFBR2 SMAD4 RNF6 PIK3CA
3 esophageal basaloid squamous cell carcinoma 33.3 TP53 EGFR
4 esophagus verrucous carcinoma 33.3 TP53 EGFR
5 barrett esophagus 32.9 TP53 SMAD4 ERBB2 EGFR CTNNB1
6 gastric cancer 32.8 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
7 esophageal disease 32.7 TP53 MIR34A MIR21 MIR126 ERBB2 EGFR
8 breast cancer 32.6 WWOX TP53 TGFBR2 SMAD4 PIK3CA MIR373
9 in situ carcinoma 32.6 TP53 PIK3CA MIR126 HRAS ERBB2 EGFR
10 lung cancer 32.5 TP53 TGFBR2 SMAD4 PIK3CA MIR373 MIR34A
11 hepatocellular carcinoma 32.4 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR30E
12 colorectal cancer 32.3 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
13 glioblastoma multiforme 32.3 TP53 PIK3CA MIR21 KRAS HRAS ERBB2
14 squamous cell carcinoma, head and neck 32.3 TP53 TGFBR2 SMAD4 PIK3CA MIR373 MIR30E
15 ovarian cancer 32.2 WWOX TP53 TGFBR2 SMAD4 PIK3CA MIR34A
16 prostate cancer 32.2 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
17 leukemia, acute myeloid 32.2 TP53 PIK3CA MIR34A MIR30E MIR21 MIR126
18 lung cancer susceptibility 3 32.2 TP53 TGFBR2 SMAD4 PIK3CA MIR30E MIR21
19 pancreatic cancer 32.1 TP53 TGFBR2 SMAD4 PIK3CA MIR34A MIR21
20 adenosquamous carcinoma 32.1 TP53 SMAD4 PIK3CA KRAS EGFR
21 esophagus adenocarcinoma 32.0 TP53 MIR21 ERBB2 EGFR CTNNB1
22 small cell carcinoma 32.0 TP53 KRAS EGFR
23 bladder cancer 32.0 TP53 PIK3CA MIR34A MIR30E MIR21 MIR126
24 cervical squamous cell carcinoma 32.0 TP53 PIK3CA KRAS EGFR CTNNB1
25 gastric adenocarcinoma 32.0 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
26 carcinosarcoma 31.9 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
27 gallbladder cancer 31.9 TP53 TGFBR2 SMAD4 PIK3CA KRAS ERBB2
28 colon adenocarcinoma 31.9 TP53 SMAD4 PIK3CA MIR21 KRAS ERBB2
29 endometrial adenocarcinoma 31.9 TP53 MIR34A KRAS ERBB2 EGFR CTNNB1
30 melanoma 31.9 TP53 PIK3CA MIR34A MIR106A KRAS HRAS
31 oral cancer 31.9 TP53 MIR21 EGFR
32 pancreatic ductal adenocarcinoma 31.9 TP53 SMAD4 MIR21 MIR148A KRAS ERBB2
33 cholangiocarcinoma 31.9 TP53 SMAD4 PIK3CA MIR373 MIR21 MIR148A
34 exanthem 31.9 KRAS HRAS ERBB2 EGFR
35 nasopharyngeal carcinoma 31.9 TP53 TGFBR2 SMAD4 PIK3CA MIR30E MIR21
36 lymphoma, non-hodgkin, familial 31.8 TP53 PIK3CA MIR373 MIR34A MIR30E MIR21
37 pancreas disease 31.8 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
38 oral squamous cell carcinoma 31.8 TP53 MIR34A MIR30E MIR21 MIR148A MIR126
39 lymphatic system disease 31.8 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
40 laryngeal squamous cell carcinoma 31.8 TP53 MIR34A MIR21 MIR148A EGFR
41 rectum cancer 31.8 MIR21 MIR126 KRAS HRAS
42 glioma 31.8 TP53 PIK3CA MIR34A MIR21 ERBB2 EGFR
43 leukemia, chronic lymphocytic 31.8 TP53 PIK3CA MIR373 MIR34A MIR30E MIR21
44 barrett's adenocarcinoma 31.7 TP53 KRAS ERBB2
45 adenoid cystic carcinoma 31.7 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
46 thoracic cancer 31.7 MIR373 MIR34A MIR30E MIR21 MIR126 ERBB2
47 oropharynx cancer 31.7 TP53 PIK3CA HRAS ERBB2 EGFR CTNNB1
48 hematologic cancer 31.7 TP53 MIR373 MIR34A MIR30E MIR21 MIR148A
49 tubular adenocarcinoma 31.7 MIR21 ERBB2 EGFR CTNNB1
50 keratosis 31.6 TP53 PIK3CA 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:

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

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
esophageal cancer
esophageal squamous cell carcinoma

Clinical features from OMIM:

133239

UMLS symptoms related to Esophageal Cancer:


nausea and vomiting, abdominal pain, constipation, 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 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.19 EGFR HRAS KRAS PIK3CA
2 Decreased viability GR00055-A-2 10.19 EGFR HRAS KRAS PIK3CA
3 Decreased viability GR00055-A-3 10.19 KRAS
4 Decreased viability GR00106-A-0 10.19 KRAS
5 Decreased viability GR00107-A-1 10.19 TGFBR2
6 Decreased viability GR00221-A-1 10.19 EGFR HRAS KRAS PIK3CA TGFBR2
7 Decreased viability GR00221-A-2 10.19 HRAS KRAS PIK3CA DCC
8 Decreased viability GR00221-A-3 10.19 HRAS TGFBR2 DCC ERBB2
9 Decreased viability GR00221-A-4 10.19 EGFR PIK3CA TGFBR2 DCC ERBB2
10 Decreased viability GR00249-S 10.19 TGFBR2
11 Decreased viability GR00301-A 10.19 KRAS
12 Decreased viability GR00381-A-1 10.19 KRAS
13 Decreased viability GR00402-S-2 10.19 PIK3CA TGFBR2
14 Decreased cell migration GR00055-A-3 9.43 EGFR HRAS PIK3CA

MGI Mouse Phenotypes related to Esophageal Cancer:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 CTNNB1 DCC EGFR ERBB2 KRAS LZTS1
2 endocrine/exocrine gland MP:0005379 10.16 CTNNB1 EGFR ERBB2 HRAS KRAS PIK3CA
3 neoplasm MP:0002006 10.15 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
4 digestive/alimentary MP:0005381 10.13 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
5 craniofacial MP:0005382 10.1 CTNNB1 EGFR ERBB2 HRAS KRAS SMAD4
6 nervous system MP:0003631 10.1 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
7 integument MP:0010771 10.09 CTNNB1 EGFR ERBB2 HRAS KRAS PIK3CA
8 muscle MP:0005369 10.01 CTNNB1 EGFR ERBB2 KRAS PIK3CA SMAD4
9 no phenotypic analysis MP:0003012 9.8 CTNNB1 EGFR HRAS KRAS PIK3CA TP53
10 pigmentation MP:0001186 9.63 CTNNB1 DCC EGFR KRAS TGFBR2 TP53
11 respiratory system MP:0005388 9.56 CTNNB1 DCC EGFR ERBB2 HRAS KRAS
12 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 470)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pravastatin Approved Phase 4 81093-37-0 54687
2
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
3
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
6
Nicotine Approved Phase 4 54-11-5 942 89594
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
9
Phenylephrine Approved Phase 4 59-42-7 6041
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Norepinephrine Approved Phase 4 51-41-2 439260
12
Dobutamine Approved Phase 4 34368-04-2 36811
13
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
14
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
15
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
16
Nedaplatin Approved, Investigational Phase 4 95734-82-0
17 Hypolipidemic Agents Phase 4
18 Lipid Regulating Agents Phase 4
19 Anticholesteremic Agents Phase 4
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Neurotransmitter Agents Phase 4
22 Anesthetics Phase 4
23 Nicotinic Agonists Phase 4
24 Central Nervous System Stimulants Phase 4
25 Dopamine Agents Phase 4
26 Omega 3 Fatty Acid Phase 4
27 Antacids Phase 4
28 Anti-Ulcer Agents Phase 4
29 Proton Pump Inhibitors Phase 4
30 Hypnotics and Sedatives Phase 4
31 Vasoconstrictor Agents Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Adrenergic Agents Phase 4
34 Adrenergic Agonists Phase 4
35 Folfirinox Phase 4
36
Menthol Approved Phase 3 2216-51-5 16666
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
38
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
39
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
40
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 6857599 5310940 9887054
41
nivolumab Approved Phase 2, Phase 3 946414-94-4
42
Tegafur Approved, Investigational Phase 3 17902-23-7 5386
43
Ipilimumab Approved Phase 2, Phase 3 477202-00-9
44
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
45
Megestrol acetate Approved, Investigational, Vet_approved Phase 3 595-33-5 11683
46
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
47
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
48
Chlorpheniramine Approved Phase 3 132-22-9, 113-92-8 2725
49
Ondansetron Approved Phase 3 99614-02-5 4595
50
leucovorin Approved Phase 3 58-05-9 6006 143

Interventional clinical trials:

(show top 50) (show all 1466)
# 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 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
4 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
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 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
7 Postoperative Pain Management After Minimally Invasive Esophagectomy Unknown status NCT02042313 Phase 4
8 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
9 Intrathoracic Esophagogastric Anastomosis After Robot Assisted Minimally Invasive Esophagectomy Using STRATAFIX Unknown status NCT02609425 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 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
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 Ablation of Gastric Dysplastic Mucosa by a Novel Endoscopic Radiofrequency Device. Completed NCT01523912 Phase 4
15 Comparing the Lozenge to the Patch for Smoking Cessation Completed NCT00365508 Phase 4 nicotine lozenge;nicotine patch
16 Enhancing Tobacco Use Treatment for African American Light Smokers Completed NCT00666978 Phase 4 bupropion hydrochloride
17 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
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 Phase III: The Study of Acid Reflux in Children With Asthma Completed NCT00442013 Phase 4 Lansoprazole;Matching placebo
20 Randomised Trial of the Effects of Individual Nutritional Counseling in Cancer Patients Completed NCT01962272 Phase 4
21 A Clinical Study of Endostar Combined With TP Regimen for Chemoradiotherapy in Esophageal Cancer Recruiting NCT04164797 Phase 4 endostar+chemoradiotherapy
22 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
23 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 Active, not recruiting NCT02845479 Phase 4
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 A Perspective Trial of Sodium Glycididazole Combined With Concurrent Chemoradiotherapy for Locally Recurrent Squamous Cell Esophageal Carcinoma Terminated NCT02721576 Phase 4 Sodium Glycididazole
26 A Perspective Trial of Sodium Glycididazole Combined With Preoperatie Concurrent Chemoradiotherapy for Locally Advanced Squamous Cell Esophageal Carcinoma Terminated NCT02721550 Phase 4 Sodium Glycididazole
27 Multicenter Comparative of Toxicity and Effectiveness of Lobaplation or Cisplatin Based Adjuvant Chemotherapy in Esophageal Carcinoma Withdrawn NCT03413436 Phase 4 Lobaplatin;Cisplatin
28 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
29 Two-arm Phase III Trial Comparing Different Time of Endoscopic Photodynamic Therapy on Esophageal and/or Gastric Cardiac Cancer Unknown status NCT02628665 Phase 3 photosensitizer(photofrin)
30 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
31 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
32 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
33 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
34 ONO-4538 Phase III Study A Multicenter, Randomized, Open-label Study in Patients With Unresectable Advanced or Recurrent Esophageal Cancer Unknown status NCT02569242 Phase 3 Nivolumab;Docetaxel/Paclitaxel
35 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
36 Chemoprevention of Esophageal Squamous Cell Carcinoma With Aspirin and Tea Polyphenols: a Randomized Controlled Trial. Unknown status NCT01496521 Phase 3 Aspirin
37 Different Cycles of Capecitabine Usage in Esophageal Cancer Concurrent Chemoradiotherapy Unknown status NCT02603159 Phase 3 Capecitabine(Aibin)
38 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
39 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
40 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
41 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
42 Self-Expandable Esophageal Radiation Stent:a Multicentric Randomized Controlled Trial in Patients With Advanced Esophageal Cancer Unknown status NCT01054274 Phase 3
43 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
44 Three Field Radical Esophagectomy Versus Two Field Esophagectomy - a Prospective Trial Unknown status NCT00193817 Phase 3
45 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
46 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
47 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
48 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
49 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
50 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

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

Genetic Tests for Esophageal Cancer

Genetic tests related to Esophageal Cancer:

# Genetic test Affiliating Genes
1 Carcinoma of Esophagus 29

Anatomical Context for Esophageal Cancer

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

19
Esophagus

MalaCards organs/tissues related to Esophageal Cancer:

40
Lymph Node, Lung, Liver, T Cells, Testes, Colon, Breast

Publications for Esophageal Cancer

Articles related to Esophageal Cancer:

(show top 50) (show all 22811)
# Title Authors PMID Year
1
Identification of somatic mutations of the RNF6 gene in human esophageal squamous cell carcinoma. 56 6
12154016 2002
2
Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma. 56 6
11956080 2002
3
The FEZ1 gene at chromosome 8p22 encodes a leucine-zipper protein, and its expression is altered in multiple human tumors. 56 6
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. 56 61
16799631 2007
5
An LOH and mutational investigation of the ST7 gene locus in human esophageal carcinoma. 56 61
12545169 2003
6
Hypermethylated APC DNA in plasma and prognosis of patients with esophageal adenocarcinoma. 61 56
11078757 2000
7
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. 56 61
10841811 2000
8
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. 6 54
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. 61 56
10679910 2000
10
Frequent loss of heterozygosity at the retinoblastoma locus in human esophageal cancers. 61 56
1913694 1991
11
Esophagus and Gastrointestinal Junction Tumors. 42 61
32402297 2020
12
Identification of crucial genes correlated with esophageal cancer by integrated high-throughput data analysis. 42 61
32443386 2020
13
Integrated genomic characterization of oesophageal carcinoma. 56
28052061 2017
14
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 56
22960999 2012
15
MiRNAs and their association with locoregional staging and survival following surgery for esophageal carcinoma. 46 61
20628822 2011
16
Prognostic significance of differentially expressed miRNAs in esophageal cancer. 61 46
20309880 2011
17
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma. 56
20729852 2010
18
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. 56
20729853 2010
19
SOX2 is an amplified lineage-survival oncogene in lung and esophageal squamous cell carcinomas. 56
19801978 2009
20
MicroRNA expression in squamous cell carcinoma and adenocarcinoma of the esophagus: associations with survival. 61 46
19789312 2009
21
MicroRNA-373 (miR-373) post-transcriptionally regulates large tumor suppressor, homolog 2 (LATS2) and stimulates proliferation in human esophageal cancer. 61 46
19501585 2009
22
Multiple roles for Sox2 in the developing and adult mouse trachea. 56
19403656 2009
23
Gene deletion of inositol hexakisphosphate kinase 2 predisposes to aerodigestive tract carcinoma. 56
19430495 2009
24
MicroRNA expression profiles of esophageal cancer. 61 46
18242245 2008
25
Distinctive microRNA profiles relating to patient survival in esophageal squamous cell carcinoma. 61 46
18172293 2008
26
Multiple dose-dependent roles for Sox2 in the patterning and differentiation of anterior foregut endoderm. 56
17522155 2007
27
Loss of RUNX3 expression significantly affects the clinical outcome of gastric cancer patients and its restoration causes drastic suppression of tumor growth and metastasis. 56
15930301 2005
28
Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours. 56
14520411 2003
29
Causal relationship between the loss of RUNX3 expression and gastric cancer. 56
11955451 2002
30
Allelic loss on chromosome bands 13q11-q13 in esophageal squamous cell carcinoma. 56
11433530 2001
31
Accumulation of genetic alterations during esophageal carcinogenesis. 56
7874113 1994
32
Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis. 6
8187090 1994
33
Loss of heterozygosity involving the APC and MCC genetic loci occurs in the majority of human esophageal cancers. 56
1565631 1992
34
17p allelic deletions and p53 protein overexpression in Barrett's adenocarcinoma. 56
1680552 1991
35
Frequent loss of heterozygosity on chromosomes 1q, 5q, and 17p in human gastric carcinomas. 56
2032230 1991
36
MSI as a predictive factor for treatment outcome of gastroesophageal adenocarcinoma. 42
32388292 2020
37
Aberrant promoter methylation and reduced expression of p16 gene in esophageal squamous cell carcinoma from Kashmir valley: a high-risk area. 61 54
19513816 2009
38
Heparanase expression by Barrett's epithelium and during esophageal carcinoma progression. 54 61
19749739 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. 61 54
19363469 2009
40
Methylated DAPK and APC promoter DNA detection in peripheral blood is significantly associated with apparent residual tumor and outcome. 61 54
19259700 2009
41
Activation of NFAT signal by p53-K120R mutant. 54 61
19416725 2009
42
Krüppel-like factor 4 represses transcription of the survivin gene in esophageal cancer cell lines. 54 61
19361279 2009
43
p53 Arg72Pro and MDM2 T309G polymorphisms, histology, and esophageal cancer prognosis. 54 61
19383811 2009
44
Association studies of CYP1A1 and GSTM1 polymorphisms with esophageal cancer risk: evidence-based meta-analyses. 61 54
19427967 2009
45
MicroRNA-21 regulates the proliferation and invasion in esophageal squamous cell carcinoma. 46
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. 54 61
18571622 2008
47
Activin A enhances MMP-7 activity via the transcription factor AP-1 in an esophageal squamous cell carcinoma cell line. 54 61
18695873 2008
48
[Construction of a siRNA vector targeting human MTA1 gene and the gene-silencing effect]. 54 61
18359692 2008
49
Interplay between oncoproteins and antioxidant enzymes in esophageal carcinoma treated without and with chemoradiotherapy: a prospective study. 54 61
18207033 2008
50
Activin a causes cancer cell aggressiveness in esophageal squamous cell carcinoma cells. 54 61
17909904 2008

Variations for Esophageal Cancer

ClinVar genetic disease variations for Esophageal Cancer:

6 (show top 50) (show all 258) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_001126112.2(TP53):c.832C>A (p.Pro278Thr)SNV Likely pathogenic,drug response 376643 rs17849781 17:7577106-7577106 17:7673788-7673788
2 TP53 NM_001126112.2(TP53):c.523C>G (p.Arg175Gly)SNV Pathogenic 376649 rs138729528 17:7578407-7578407 17:7675089-7675089
3 TP53 NM_001126112.2(TP53):c.818G>T (p.Arg273Leu)SNV Pathogenic 376655 rs28934576 17:7577120-7577120 17:7673802-7673802
4 TP53 NM_001126112.2(TP53):c.644G>T (p.Ser215Ile)SNV Pathogenic 376660 rs587782177 17:7578205-7578205 17:7674887-7674887
5 TP53 NM_001126112.2(TP53):c.713G>T (p.Cys238Phe)SNV Pathogenic 376574 rs730882005 17:7577568-7577568 17:7674250-7674250
6 TP53 NM_001126112.2(TP53):c.713G>C (p.Cys238Ser)SNV Pathogenic 376575 rs730882005 17:7577568-7577568 17:7674250-7674250
7 TP53 NM_001126112.2(TP53):c.712T>C (p.Cys238Arg)SNV Pathogenic 376576 rs1057519981 17:7577569-7577569 17:7674251-7674251
8 TP53 NM_001126112.2(TP53):c.730G>A (p.Gly244Ser)SNV Pathogenic 376600 rs1057519989 17:7577551-7577551 17:7674233-7674233
9 TP53 NM_001126112.2(TP53):c.537T>G (p.His179Gln)SNV Pathogenic 376607 rs876660821 17:7578393-7578393 17:7675075-7675075
10 TP53 NM_001126112.2(TP53):c.578A>C (p.His193Pro)SNV Pathogenic 376612 rs786201838 17:7578271-7578271 17:7674953-7674953
11 TP53 NM_001126112.2(TP53):c.722C>A (p.Ser241Tyr)SNV Pathogenic 376663 rs28934573 17:7577559-7577559 17:7674241-7674241
12 TP53 NM_001126112.2(TP53):c.517G>T (p.Val173Leu)SNV Pathogenic 376668 rs876660754 17:7578413-7578413 17:7675095-7675095
13 LZTS1 NM_021020.5(LZTS1):c.85T>C (p.Ser29Pro)SNV Pathogenic 4245 rs28937897 8:20112608-20112608 8:20255097-20255097
14 LZTS1 NM_021020.5(LZTS1):c.355A>G (p.Lys119Glu)SNV Pathogenic 4246 rs119473032 8:20111087-20111087 8:20253576-20253576
15 WWOX NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)SNV Pathogenic 5203 rs119487098 16:78466465-78466465 16:78432568-78432568
16 RNF6 NM_005977.4(RNF6):c.305G>A (p.Arg102Lys)SNV Pathogenic 5700 rs121434522 13:26789714-26789714 13:26215577-26215577
17 RNF6 NM_005977.4(RNF6):c.724G>A (p.Ala242Thr)SNV Pathogenic 5701 rs121434523 13:26789295-26789295 13:26215158-26215158
18 RNF6 NM_005977.4(RNF6):c.731G>A (p.Gly244Asp)SNV Pathogenic 5702 rs121434524 13:26789288-26789288 13:26215151-26215151
19 SMAD4 NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)SNV Pathogenic 8543 rs80338963 18:48591918-48591918 18:51065548-51065548
20 TP53 NM_000546.6(TP53):c.742C>T (p.Arg248Trp)SNV Pathogenic 12347 rs121912651 17:7577539-7577539 17:7674221-7674221
21 TP53 NM_001126112.2(TP53):c.733G>T (p.Gly245Cys)SNV Pathogenic 12349 rs28934575 17:7577548-7577548 17:7674230-7674230
22 TP53 NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr)SNV Pathogenic 12354 rs121912655 17:7577556-7577556 17:7674238-7674238
23 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln)SNV Pathogenic 12356 rs11540652 17:7577538-7577538 17:7674220-7674220
24 TGFBR2 NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)SNV Pathogenic 12519 rs104893819 3:30729962-30729962 3:30688470-30688470
25 HRAS NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)SNV Pathogenic 12602 rs104894229 11:534289-534289 11:534289-534289
26 HRAS NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)SNV Pathogenic 12603 rs104894230 11:534288-534288 11:534288-534288
27 HRAS NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)SNV Pathogenic 12613 rs104894229 11:534289-534289 11:534289-534289
28 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
29 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)SNV Pathogenic 13653 rs121913279 3:178952085-178952085 3:179234297-179234297
30 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)SNV Pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303
31 TP53 NM_000546.6(TP53):c.733G>A (p.Gly245Ser)SNV Pathogenic 12365 rs28934575 17:7577548-7577548 17:7674230-7674230
32 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His)SNV Pathogenic 12366 rs28934576 17:7577120-7577120 17:7673802-7673802
33 PIK3CA NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)SNV Pathogenic 13659 rs121913274 3:178936092-178936092 3:179218304-179218304
34 DCC NM_005215.4(DCC):c.503T>C (p.Met168Thr)SNV Pathogenic 17075 rs121912967 18:50432504-50432504 18:52906134-52906134
35 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His)SNV Pathogenic 12374 rs28934578 17:7578406-7578406 17:7675088-7675088
36 SMAD4 NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)SNV Pathogenic 24832 rs377767347 18:48591919-48591919 18:51065549-51065549
37 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
38 EGFR NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)SNV Pathogenic 45251 rs121913465 7:55249005-55249005 7:55181312-55181312
39 TP53 NM_000546.6(TP53):c.638G>A (p.Arg213Gln)SNV Pathogenic 135359 rs587778720 17:7578211-7578211 17:7674893-7674893
40 TP53 NM_001126112.2(TP53):c.844C>G (p.Arg282Gly)SNV Pathogenic 140821 rs28934574 17:7577094-7577094 17:7673776-7673776
41 TP53 NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys)SNV Pathogenic 127814 rs148924904 17:7578442-7578442 17:7675124-7675124
42 TP53 NM_001126112.2(TP53):c.856G>A (p.Glu286Lys)SNV Pathogenic 183752 rs786201059 17:7577082-7577082 17:7673764-7673764
43 TP53 NM_001126112.2(TP53):c.374C>A (p.Thr125Lys)SNV Pathogenic 216465 rs786201057 17:7579313-7579313 17:7675995-7675995
44 TP53 NM_001126112.2(TP53):c.517G>A (p.Val173Met)SNV Pathogenic 233951 rs876660754 17:7578413-7578413 17:7675095-7675095
45 TP53 NM_001126112.2(TP53):c.743G>T (p.Arg248Leu)SNV Pathogenic 230253 rs11540652 17:7577538-7577538 17:7674220-7674220
46 TP53 NM_001126112.2(TP53):c.743G>C (p.Arg248Pro)SNV Pathogenic 237954 rs11540652 17:7577538-7577538 17:7674220-7674220
47 WWOX NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)SNV Pathogenic 241105 rs756762196 16:78458951-78458951 16:78425054-78425054
48 TP53 NM_001126112.2(TP53):c.818G>C (p.Arg273Pro)SNV Pathogenic/Likely pathogenic 231060 rs28934576 17:7577120-7577120 17:7673802-7673802
49 TP53 NM_001126112.2(TP53):c.638G>C (p.Arg213Pro)SNV Pathogenic/Likely pathogenic 231214 rs587778720 17:7578211-7578211 17:7674893-7674893
50 PIK3CA NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)SNV Pathogenic/Likely pathogenic 217293 rs121913275 3:178936093-178936093 3:179218305-179218305

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:

9 (show top 50) (show all 33598)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM142081527 ZSCAN18 oesophagus,NS,carcinoma,squamous cell carcinoma c.1006+2T>A p.? 19:58086172-58086172 18
2 COSM149923539 ZNF831 oesophagus,NS,carcinoma,squamous cell carcinoma c.605T>C p.L202P 20:59191624-59191624 18
3 COSM88515958 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.938C>G p.S313C 17:82831517-82831517 18
4 COSM88515712 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.668C>G p.S223* 17:82831787-82831787 18
5 COSM88513307 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.170C>G p.S57* 17:82832285-82832285 18
6 COSM88514972 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.80G>C p.C27S 17:82832375-82832375 18
7 COSM88514017 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.777C>A p.Y259* 17:82831678-82831678 18
8 COSM88515841 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.37C>A p.H13N 17:82832418-82832418 18
9 COSM88514274 ZNF750 oesophagus,NS,carcinoma,squamous cell carcinoma c.768C>G p.Y256* 17:82831687-82831687 18
10 COSM90465117 ZNF548 oesophagus,NS,carcinoma,squamous cell carcinoma c.1016A>C p.H339P 19:57399267-57399267 18
11 COSM104733716 ZNF365 oesophagus,NS,carcinoma,squamous cell carcinoma c.712G>A p.E238K 10:62376905-62376905 18
12 COSM109217250 ZNF230 oesophagus,NS,carcinoma,squamous cell carcinoma c.87G>C p.Q29H 19:44008861-44008861 18
13 COSM100755139 ZNF207 oesophagus,NS,carcinoma,squamous cell carcinoma c.1210C>T p.R404W 17:32369340-32369340 18
14 COSM129903764 ZNF185 oesophagus,NS,carcinoma,squamous cell carcinoma c.491A>T p.E164V 23:152919042-152919042 18
15 COSM127363671 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.2120C>G p.S707C 8:76706208-76706208 18
16 COSM127389059 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.10574C>T p.S3525F 8:76864288-76864288 18
17 COSM127376736 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.4099G>A p.D1367N 8:76851020-76851020 18
18 COSM127405081 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.439G>T p.E147* 8:76704527-76704527 18
19 COSM127390973 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.9517C>T p.P3173S 8:76863231-76863231 18
20 COSM127363056 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.6845G>A p.R2282Q 8:76853766-76853766 18
21 COSM127370936 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.9060G>T p.L3020F 8:76855981-76855981 18
22 COSM127394655 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.6266C>A p.P2089H 8:76853187-76853187 18
23 COSM127390958 ZFHX4 oesophagus,NS,carcinoma,squamous cell carcinoma c.8374G>A p.G2792R 8:76855295-76855295 18
24 COSM149278275 ZFHX3 oesophagus,NS,carcinoma,squamous cell carcinoma c.359G>A p.G120E 16:72959787-72959787 18
25 COSM149287766 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.8191C>T p.R2731W 16:72794491-72794491 18
26 COSM149284170 ZFHX3 oesophagus,NS,carcinoma,squamous cell carcinoma c.4628G>T p.R1543L 16:72798054-72798054 18
27 COSM149289337 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.9433A>C p.T3145P 16:72788843-72788843 18
28 COSM149309362 ZFHX3 oesophagus,NS,carcinoma,squamous cell carcinoma c.3496C>T p.P1166S 16:72829812-72829812 18
29 COSM149305540 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.2968C>T p.R990C 16:72950717-72950717 18
30 COSM149280879 ZFHX3 oesophagus,NS,carcinoma,squamous cell carcinoma c.4132C>T p.Q1378* 16:72798550-72798550 18
31 COSM149262774 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.5662G>A p.E1888K 16:72797020-72797020 18
32 COSM149268853 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.9380C>T p.P3127L 16:72793302-72793302 18
33 COSM149309352 ZFHX3 oesophagus,NS,carcinoma,squamous cell carcinoma c.3497C>T p.P1166L 16:72829811-72829811 18
34 COSM149305520 ZFHX3 oesophagus,NS,carcinoma,adenocarcinoma c.9908T>G p.L3303R 16:72788368-72788368 18
35 COSM101562535 ZFAT oesophagus,NS,carcinoma,squamous cell carcinoma c.179C>G p.S60* 8:134657578-134657578 18
36 COSM101565747 ZFAT oesophagus,NS,carcinoma,squamous cell carcinoma c.2285G>A p.R762H 8:134600626-134600626 18
37 COSM91659061 ZC3H7B oesophagus,NS,carcinoma,squamous cell carcinoma c.476T>A p.L159Q 22:41330054-41330054 18
38 COSM103625950 ZC3H6 oesophagus,NS,carcinoma,squamous cell carcinoma c.637T>G p.F213V 2:112311827-112311827 18
39 COSM85043528 ZC3H14 oesophagus,NS,carcinoma,squamous cell carcinoma c.1793T>A p.L598* 14:88607288-88607288 18
40 COSM148205465 ZC3H11A oesophagus,NS,carcinoma,squamous cell carcinoma c.800C>T p.S267F 1:203831760-203831760 18
41 COSM132847594 ZBED6 oesophagus,NS,carcinoma,squamous cell carcinoma c.*3499C>T p.? 1:203831760-203831760 18
42 COSM90620970 YME1L1 oesophagus,NS,carcinoma,squamous cell carcinoma c.43C>T p.P15S 10:27149031-27149031 18
43 COSM90621808 YME1L1 oesophagus,NS,carcinoma,squamous cell carcinoma c.863-2A>G p.? 10:27134124-27134124 18
44 COSM84934428 XPO5 oesophagus,NS,carcinoma,squamous cell carcinoma c.2092T>C p.Y698H 6:43547676-43547676 18
45 COSM103463928 XIRP2 oesophagus,NS,carcinoma,squamous cell carcinoma c.4627G>C p.E1543Q 2:167246019-167246019 18
46 COSM103463922 XIRP2 oesophagus,NS,carcinoma,squamous cell carcinoma c.5215G>A p.E1739K 2:167246607-167246607 18
47 COSM103449473 XIRP2 oesophagus,NS,carcinoma,squamous cell carcinoma c.*103C>G p.? 2:167257920-167257920 18
48 COSM100967014 WWC3 oesophagus,NS,carcinoma,squamous cell carcinoma c.2836C>T p.R946* 23:10136705-10136705 18
49 COSM91374040 WT1 oesophagus,NS,carcinoma,adenocarcinoma c.497G>T p.G166V 11:32434849-32434849 18
50 COSM91364919 WT1 oesophagus,NS,carcinoma,adenocarcinoma c.1385G>A p.R462Q 11:32392019-32392019 18

Copy number variations for Esophageal Cancer from CNVD:

7 (show top 50) (show all 64)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 32702 1 39027237 40780163 Amplification 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:

36
# 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 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 TGFBR2 SMAD4 KRAS HRAS ERBB2 EGFR
2
Show member pathways
13.6 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
13.12 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
6
Show member pathways
13.06 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
7
Show member pathways
13 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
12.93 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
12.75 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
18
Show member pathways
12.73 TGFBR2 PIK3CA KRAS HRAS EGFR
19
Show member pathways
12.7 PIK3CA KRAS HRAS EGFR CTNNB1
20
Show member pathways
12.7 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
21 12.68 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
22
Show member pathways
12.67 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
23
Show member pathways
12.58 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
24
Show member pathways
12.56 TP53 SMAD4 PIK3CA KRAS HRAS EGFR
25
Show member pathways
12.47 PIK3CA KRAS HRAS ERBB2 EGFR CTNNB1
26
Show member pathways
12.45 PIK3CA KRAS HRAS EGFR
27
Show member pathways
12.45 PIK3CA KRAS HRAS CTNNB1
28
Show member pathways
12.43 TP53 TGFBR2 PIK3CA KRAS HRAS ERBB2
29 12.42 TP53 TGFBR2 SMAD4 PIK3CA KRAS HRAS
30
Show member pathways
12.4 PIK3CA KRAS HRAS ERBB2 EGFR
31
Show member pathways
12.4 PIK3CA KRAS HRAS ERBB2 EGFR CTNNB1
32
Show member pathways
12.37 PIK3CA HRAS ERBB2 EGFR
33 12.36 TP53 PIK3CA KRAS HRAS
34
Show member pathways
12.36 TP53 KRAS HRAS EGFR
35
Show member pathways
12.36 TP53 TGFBR2 PIK3CA HRAS ERBB2 EGFR
36
Show member pathways
12.32 TP53 PIK3CA KRAS HRAS ERBB2 EGFR
37 12.3 PIK3CA KRAS HRAS DCC
38
Show member pathways
12.27 TP53 TGFBR2 PIK3CA KRAS HRAS
39 12.25 KRAS HRAS ERBB2 EGFR
40 12.24 TP53 TGFBR2 PIK3CA KRAS HRAS
41 12.24 TP53 TGFBR2 SMAD4 KRAS EGFR DCC
42
Show member pathways
12.22 PIK3CA KRAS HRAS ERBB2 EGFR
43 12.22 TP53 TGFBR2 SMAD4 KRAS EGFR CTNNB1
44
Show member pathways
12.2 TP53 PIK3CA KRAS HRAS
45 12.19 SMAD4 PIK3CA KRAS HRAS CTNNB1
46
Show member pathways
12.16 PIK3CA KRAS HRAS
47
Show member pathways
12.15 TGFBR2 SMAD4 PIK3CA KRAS HRAS EGFR
48
Show member pathways
12.14 TP53 KRAS HRAS EGFR
49
Show member pathways
12.13 KRAS HRAS ERBB2 EGFR
50
Show member pathways
12.11 TP53 PIK3CA ERBB2 EGFR

GO Terms for Esophageal Cancer

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

# Name GO ID Score Top Affiliating Genes
1 extracellular vesicle GO:1903561 9.1 MIR34A MIR30E MIR21 MIR148A MIR126 MIR106A

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.97 TP53 TGFBR2 SMAD4 MIR21 HRAS CTNNB1
2 heart development GO:0007507 9.94 TP53 TGFBR2 ERBB2 CTNNB1
3 in utero embryonic development GO:0001701 9.93 TP53 TGFBR2 SMAD4 CTNNB1
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 MIR21 MIR126 HRAS EGFR
5 regulation of cell proliferation GO:0042127 9.88 TP53 TGFBR2 SMAD4 EGFR CTNNB1
6 positive regulation of MAPK cascade GO:0043410 9.86 MIR126 HRAS ERBB2 CTNNB1
7 positive regulation of protein phosphorylation GO:0001934 9.83 MIR21 KRAS HRAS ERBB2 EGFR
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.81 TP53 TGFBR2 SMAD4 MIR21
9 Ras protein signal transduction GO:0007265 9.8 TP53 KRAS HRAS
10 gene silencing by miRNA GO:0035195 9.8 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126
11 positive regulation of epithelial cell proliferation GO:0050679 9.78 HRAS ERBB2 EGFR
12 positive regulation of protein kinase B signaling GO:0051897 9.77 PIK3CA MIR21 MIR126 ERBB2 EGFR
13 liver development GO:0001889 9.76 PIK3CA KRAS HRAS EGFR
14 gastrulation GO:0007369 9.74 TP53 TGFBR2 SMAD4
15 negative regulation of vascular endothelial growth factor production GO:1904046 9.72 MIR373 MIR34A MIR106A
16 ERBB2 signaling pathway GO:0038128 9.71 PIK3CA ERBB2 EGFR
17 cellular response to growth factor stimulus GO:0071363 9.71 TGFBR2 ERBB2 EGFR CTNNB1
18 negative regulation of vascular endothelial cell proliferation GO:1905563 9.7 MIR34A MIR30E MIR126
19 positive regulation of cell proliferation GO:0008284 9.7 TGFBR2 MIR21 KRAS HRAS ERBB2 EGFR
20 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.63 TP53 EGFR
21 positive regulation of MAP kinase activity GO:0043406 9.62 KRAS HRAS ERBB2 EGFR
22 endothelial tube morphogenesis GO:0061154 9.61 MIR21 CTNNB1
23 response to isolation stress GO:0035900 9.6 KRAS HRAS
24 negative regulation of ERBB signaling pathway GO:1901185 9.59 ERBB2 EGFR
25 trachea formation GO:0060440 9.58 TGFBR2 CTNNB1
26 trachea morphogenesis GO:0060439 9.58 TGFBR2 CTNNB1
27 positive regulation of gene expression GO:0010628 9.5 TP53 MIR34A MIR21 KRAS HRAS ERBB2
28 positive regulation of epithelial to mesenchymal transition GO:0010718 8.92 TGFBR2 SMAD4 MIR21 CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor binding GO:0001085 9.33 TP53 SMAD4 CTNNB1
2 I-SMAD binding GO:0070411 9.26 SMAD4 CTNNB1
3 protein phosphatase binding GO:0019903 9.26 TP53 ERBB2 EGFR CTNNB1
4 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR373 MIR34A MIR30E MIR21 MIR148A MIR126

Sources for Esophageal Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB