HNSCC
MCID: SQM013
MIFTS: 75

Squamous Cell Carcinoma, Head and Neck (HNSCC)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Squamous Cell Carcinoma, Head and Neck

MalaCards integrated aliases for Squamous Cell Carcinoma, Head and Neck:

Name: Squamous Cell Carcinoma, Head and Neck 57 12
Squamous Cell Carcinoma of the Head and Neck 11 19 42 73 28 5 14 71
Head and Neck Squamous Cell Carcinoma 11 42 14 16
Hnscc 57 42 73 53
Squamous Cell Carcinoma of Lip 71 33
Squamous Cell Carcinoma of the Nasal Cavity and Paranasal Sinuses 58
Squamous Cell Carcinoma of the Nasal Cavity and Sinuses 58
Squamous Cell Carcinoma, Head and Neck, Somatic 57
Squamous Cell Carcinoma of the Hypopharynx 58
Squamous Cell Carcinoma of Salivary Glands 58
Squamous Cell Carcinoma of the Oral Cavity 58
Squamous Cell Carcinomas of Head and Neck 11
Squamous Cell Carcinoma of the Oropharynx 58
Carcinoma, Squamous Cell of Head and Neck 75
Squamous Cell Carcinoma of Oropharynx Nos 33
Carcinoma, Squamous Cell, Head and Neck 38
Salivary Gland Squamous Cell Carcinoma 16
Squamous Cell Carcinoma of the Lip 58
Carcinoma of the Head and Neck 11
Lip Squamous Cell Carcinoma 53
Cancer of Head and Neck 71
Scchn 42

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Squamous Cell Carcinoma of the Hypopharynx: 1-9/100000 (Europe) 58
Squamous Cell Carcinoma of the Oropharynx: 1-9/100000 (Europe) 58
Squamous Cell Carcinoma of the Nasal Cavity and Paranasal Sinuses: 1-9/1000000 (Worldwide) 58
Squamous Cell Carcinoma of the Oral Cavity: 1-9/100000 (Europe) 58
Squamous Cell Carcinoma of the Lip: 1-9/100000 (Worldwide) 58

Age Of Onset:

Squamous Cell Carcinoma of the Hypopharynx: Adult,Elderly 58
Squamous Cell Carcinoma of the Oropharynx: Adolescent,Adult,Elderly 58
Squamous Cell Carcinoma of the Nasal Cavity and Paranasal Sinuses: Adult,Elderly 58
Squamous Cell Carcinoma of the Oral Cavity: Adolescent,Adult,Childhood,Elderly 58
Squamous Cell Carcinoma of the Lip: Adult,Elderly 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 11 DOID:5520
OMIM® 57 275355
NCIt 49 C34447
SNOMED-CT 68 716659002
ICD10 via Orphanet 32 C12 C13.0 C13.2 more
MedGen 40 C1168401
SNOMED-CT via HPO 69 28899001 402815007
UMLS 71 C0278996 C0280302 C1168401

Summaries for Squamous Cell Carcinoma, Head and Neck

MedlinePlus Genetics: 42 Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in the mucous membranes of the mouth, nose, and throat.HNSCC is classified by its location: it can occur in the mouth (oral cavity), the middle part of the throat near the mouth (oropharynx), the space behind the nose (nasal cavity and paranasal sinuses), the upper part of the throat near the nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the throat near the larynx (hypopharynx). Depending on the location, the cancer can cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual bleeding or pain in the mouth, sinus congestion that does not clear, sore throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, difficulty breathing, or enlarged lymph nodes.HNSCC can spread (metastasize) to other parts of the body, such as the lymph nodes or lungs. If it spreads, the cancer has a worse prognosis and can be fatal. About half of affected individuals survive more than five years after diagnosis.

MalaCards based summary: Squamous Cell Carcinoma, Head and Neck, also known as squamous cell carcinoma of the head and neck, is related to breast cancer and hepatocellular carcinoma, and has symptoms including tinnitus, snoring and halitosis. An important gene associated with Squamous Cell Carcinoma, Head and Neck is ING1 (Inhibitor Of Growth Family Member 1), and among its related pathways/superpathways are Direct p53 effectors and Senescence and autophagy in cancer. The drugs Cathine and Methadone have been mentioned in the context of this disorder. Affiliated tissues include lymph node, salivary gland and tongue, and related phenotype is squamous cell carcinoma.

Orphanet 58 Squamous cell carcinoma of the hypopharynx: A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, most commonly located in the piriform sinus, less frequently the posterior pharyngeal wall or the postcricoid area. The tumor can spread directly to adjacent structures or metastasize via lymphatic and blood vessels to regional lymph nodes, or lung, liver, and bones, respectively. Primary risk factors are tobacco smoking and (to a lesser extent) alcohol consumption. Patients may present with odynophagia, dysphagia, signs and symptoms related to a neck mass, voice changes, otalgia, and constitutional symptoms.

Squamous cell carcinoma of the nasal cavity and paranasal sinuses: A rare head and neck tumor characterized by a malignant epithelial neoplasm most commonly arising in the maxillary sinus or nasal cavity, occurring as a keratinizing, a non-keratinizing, or a spindle cell (sarcomatoid) type. Patients may present with nasal obstruction, epistaxis, rhinorrhea, swelling, or (at more advances stages) with facial pain and/or paralysis, diplopia, and proptosis. Patients with paranasal sinus tumors present later and at a higher stage than patients with nasal cavity carcinomas. Risk factors are smoking and industrial exposures. High-risk HPV is most frequently associated with the non-keratinizing type.

Squamous cell carcinoma of the oropharynx: A rare head and neck tumor characterized by a malignant epithelial neoplasm with evidence of squamous differentiation, which may arise in association with high-risk HPV in a subset of cases. HPV-positive tumors have a strong predilection for the base of tongue and the palatine tonsils and typically present at an advanced clinical stage with cervical lymphadenopathy. They are associated with significantly better prognosis than HPV-negative tumors, which more commonly involve the soft palate, manifest as sore throat and difficulty in swallowing or a neck mass, and occur in older patients. Smoking and alcohol consumption are important risk factors.

Squamous cell carcinoma of the oral cavity: A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis.

Squamous cell carcinoma of the lip: A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, most commonly arising at the vermilion border of the lower lip. Patients present with a usually asymptomatic lesion of variable appearance, such as ulceration, a focus of whitish thickening, a dry atrophic area, or an area of persistent chapping and localized flaking and crusting. Carcinomas of the lower lip tend to progress slowly (as opposed to those of the upper lip). Invasion of adjacent structures, including perineural spread, is typical, with a variable rate of metastasis, depending on the location.

UniProtKB/Swiss-Prot: 73 A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes.

Disease Ontology: 11 A head and neck carcinoma that has material basis in squamous cells that line the moist, mucosal surfaces inside the head and neck.

Wikipedia: 75 Squamous-cell carcinomas (SCCs), also known as epidermoid carcinomas, comprise a number of different... more...

More information from OMIM: 275355

Related Diseases for Squamous Cell Carcinoma, Head and Neck

Diseases related to Squamous Cell Carcinoma, Head and Neck via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 644)
# Related Disease Score Top Affiliating Genes
1 breast cancer 32.3 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR98 MIR31
2 hepatocellular carcinoma 32.2 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR210
3 melanoma 32.2 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR210
4 bladder cancer 32.1 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR21
5 tongue carcinoma 32.1 TP53 MIR31 MIR21 FAM3D-AS1
6 renal cell carcinoma, nonpapillary 32.1 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR210
7 head and neck cancer 32.1 TP53 PTEN MIR31 MIR210 MIR21
8 pancreatic cancer 32.0 TP53 TNFRSF10B SPRY4-IT1 PTEN PRKD1 MIR31
9 skin carcinoma 32.0 TP53 PTEN MIR31 MIR21
10 lymphatic system disease 31.9 TP53 MIR31 MIR210 MIR21
11 prostate cancer 31.8 TP53 TNFRSF10B SPRY4-IT1 PTEN PRKD1 MIR31
12 lung cancer susceptibility 3 31.8 TP53 MIR31 MIR21 HOTAIR H19 CYTOR
13 human papillomavirus infectious disease 31.8 TP53 PTEN MIR31 MIR21
14 ovarian cancer 31.8 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR210
15 lung cancer 31.7 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR98 MIR31
16 cervical cancer 31.6 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR31 MIR210
17 retinitis pigmentosa 11 31.6 TP53 PTEN HOTAIR CYTOR
18 kidney cancer 31.6 TP53 MIR210 MIR21 HOTAIR H19 EPB41L4A-DT
19 oropharynx cancer 31.5 TP53 PTEN MIR21
20 glioma 31.5 TP53 SPRY4-IT1 PTEN MIR210 MIR21 LUCAT1
21 squamous cell carcinoma 31.5 TP53 TNFRSF10B SPRY4-IT1 PTEN ING1 HOTAIR
22 high grade glioma 31.5 TP53 TNFRSF10B SPRY4-IT1 PTEN MIR21 HOTAIR
23 lip and oral cavity cancer 31.5 TP53 MIR31 MIR21
24 glioblastoma 31.5 TP53 TNFRSF10B PTEN MIR210 MIR21 HOTAIR
25 laryngeal squamous cell carcinoma 31.5 TP53 TNFRSF10B PTEN MIR21 ING1 HOTAIR
26 neuroblastoma 31.4 TP53 TNFRSF10B PTEN MIR21 HOTAIR HAND2-AS1
27 thyroid cancer, nonmedullary, 1 31.4 TP53 HOTAIR H19
28 osteogenic sarcoma 31.4 TP53 LUCAT1 HOTAIR H19
29 colorectal adenocarcinoma 31.4 TP53 PTEN MIR31
30 connective tissue disease 31.3 TP53 PTEN MIR98 MIR31 MIR210 MIR21
31 laryngeal disease 31.3 MIR31 MIR210 MIR21
32 gastric adenocarcinoma 31.2 TP53 PTEN HOTAIR H19
33 oral squamous cell carcinoma 31.2 MIR31 MIR21 HOTAIR H19
34 esophageal cancer 31.1 TP53 PTEN MIR31 MIR21 HOTAIR H19
35 esophagus squamous cell carcinoma 31.1 LUCAT1 HOTAIR EPIST CYTOR
36 glioma susceptibility 1 31.1 TP53 MIR21 CYTOR
37 lung oat cell carcinoma 31.1 TP53 PTEN
38 nasopharyngeal carcinoma 31.1 TP53 PTEN MIR31 MIR21 HOTAIR H19
39 skin melanoma 31.1 TP53 PTEN MIR21
40 gastric cardia adenocarcinoma 31.1 HOTAIR H19 EPIST
41 colonic benign neoplasm 31.0 TP53 PTEN MIR21
42 larynx cancer 31.0 TP53 MIR31 MIR210 MIR21 FAM3D-AS1
43 cervix carcinoma 31.0 TP53 PTEN MIR21
44 leukemia, acute myeloid 30.9 TP53 TNFRSF10B PTEN MIR31 MIR210 MIR21
45 pancreatic ductal adenocarcinoma 30.9 TP53 MIR31 MIR210 MIR21 HOTAIR H19
46 myeloma, multiple 30.8 TP53 TNFRSF10B MIR21 HOTAIR H19
47 skin squamous cell carcinoma 30.8 TP53 PTEN MIR21 HOTAIR
48 leukemia, chronic myeloid 30.8 TP53 TNFRSF10B PTEN HOTAIR H19
49 small cell cancer of the lung 30.8 TP53 PTEN MIR21 HOTAIR
50 tongue squamous cell carcinoma 30.7 TP53 MIR210 MIR21 CYTOR

Graphical network of the top 20 diseases related to Squamous Cell Carcinoma, Head and Neck:



Diseases related to Squamous Cell Carcinoma, Head and Neck

Symptoms & Phenotypes for Squamous Cell Carcinoma, Head and Neck

Human phenotypes related to Squamous Cell Carcinoma, Head and Neck:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 squamous cell carcinoma 30 HP:0002860

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Lab:
beta family transforming growth factor resistance

Clinical features from OMIM®:

275355 (Updated 08-Dec-2022)

UMLS symptoms related to Squamous Cell Carcinoma, Head and Neck:


tinnitus; snoring; halitosis; sore throat; coughing; vertigo/dizziness; equilibration disorder

Drugs & Therapeutics for Squamous Cell Carcinoma, Head and Neck

Drugs for Squamous Cell Carcinoma, Head and Neck (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 390)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
2
Methadone Approved Phase 4 76-99-3, 1095-90-5 4095
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Cevimeline Approved Phase 4 107233-08-9 83898 25137844 2684
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Raltitrexed Approved, Investigational Phase 4 112887-68-0 104758 135400182
7 Cholinergic Agents Phase 4
8 Analgesics Phase 4
9 Respiratory System Agents Phase 4
10 Antitussive Agents Phase 4
11 Analgesics, Opioid Phase 4
12 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
13 Narcotics Phase 4
14 Muscarinic Agonists Phase 4
15 Anesthetics, Intravenous Phase 4
16 Anesthetics, General Phase 4
17
Racepinephrine Approved, Vet_approved Phase 3 51-43-4, 329-65-7 838 5816
18
Aldesleukin Approved Phase 3 110942-02-4
19
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
20
Lapatinib Approved, Investigational Phase 3 231277-92-2, 388082-78-8 208908
21
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
22
Zinc cation Approved, Experimental, Investigational Phase 3 7440-66-6, 23713-49-7 32051
23
Cobalt Approved, Experimental, Withdrawn Phase 3 7440-48-4 104729
24
Dapsone Approved, Investigational Phase 3 80-08-0 2955
25
Minocycline Approved, Investigational Phase 3 10118-90-8, 13614-98-7 54675783 5281021
26
Tocopherol Approved, Investigational Phase 3 1406-66-2
27
Cemiplimab Approved, Investigational Phase 3 1801342-60-8
28
Sodium citrate Approved, Investigational Phase 2, Phase 3 68-04-2 23431961
29
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
30
Ipilimumab Approved Phase 3 477202-00-9
31
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
32
Bevacizumab Approved, Investigational Phase 3 216974-75-3 135329020
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3 3680
34
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 3003 5743
35
Pembrolizumab Approved Phase 2, Phase 3 1374853-91-4 254741536
36
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
37
Edetate calcium disodium anhydrous Approved, Vet_approved Phase 3 62-33-9, 60-00-4 6049
38
Pentetic acid Approved Phase 3 67-43-6
39
Afatinib Approved Phase 3 439081-18-2, 850140-72-6 53445376 10184653
40
Talimogene laherparepvec Approved, Experimental, Investigational Phase 3 1187560-31-1
41
Mometasone furoate Approved, Investigational, Vet_approved Phase 2, Phase 3 83919-23-7 4240 441336
42
Acetaminophen Approved Phase 3 103-90-2 1983
43
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
44
Citric acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 77-92-9 311
45 Kava Approved, Investigational, Nutraceutical Phase 3 9000-38-8
46
Zalutumumab Investigational Phase 3 667901-13-5
47
Tirapazamine Investigational Phase 3 27314-97-2 135413511
48
Tocotrienol Investigational Phase 3 6829-55-6 9929901
49
Nimorazole Investigational Phase 3 6506-37-2 23009
50 Epinephryl borate Phase 3

Interventional clinical trials:

(show top 50) (show all 1297)
# Name Status NCT ID Phase Drugs
1 Phase IV Trial to Use Stereotactic Body Radiotherapy for Head and Neck Tumors Completed NCT01344356 Phase 4
2 Comparison Between Two Regimens of Chemotherapy Concurrent With Radiotherapy in Locally Advanced Head and Neck Cancer Completed NCT03998696 Phase 4 Cisplatin 40 mg/m2;Cisplatin 100 mg/m2
3 An Investigator-Initiated,Multicenter,Randomized,Double-Blind Placebo-Controlled Design Study to Assess the Effectiveness of CeviMeline to Improve OraL Health in Patients With XErostomia Secondary to Radiation Therapy for Treatment of Head and Neck Squamous Cell Carcinoma Completed NCT00466388 Phase 4 Cevimeline
4 A Clinical Trial of ALA Photodynamic Therapy for Treatment of Actinic Cheilitis in Patients With Squamous Cell Carcinoma of the Lip. Completed NCT00868088 Phase 4
5 Treatment of Pain in Head-and-Neck Cancer Patients: is Methadone More Effective Than Fentanyl? Completed NCT01317589 Phase 4 fentanyl;methadone
6 Radiotherapy Combine With Raltitrexed Versus Radiotherapy Alone in Older Patients With Head and Neck Squamous Cell Carcinoma: a Prospective Randomized Controlled Trial Recruiting NCT03196843 Phase 4 Raltitrexed
7 A Phase 4, Single-arm, Open-label Clinical Study of Pembrolizumab (MK-3475) to Evaluate the Efficacy and Safety of MK-3475 Plus Carboplatin and Paclitaxel as First-line Treatment of Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma (KEYNOTE B10). Active, not recruiting NCT04489888 Phase 4 Pembrolizumab;Carboplatin;Paclitaxel
8 Multicenter, Randomized, Double-blind, Phase Ⅲ Clinical Study to Evaluate the Efficacy and Safety of TQB2450 Plus Chemotherapy(Cisplatin or Carboplatin+ 5-Fluorouracil (5-FU) ) Versus Placebo Plus Chemotherapy as First-Line Treatment in Patients With Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma(R/M SCCHN) Unknown status NCT03855384 Phase 3 TQB2450+cisplatin or carboplatin + 5-Fluorouracil (5-FU);placebo+cisplatin or carboplatin + 5-Fluorouracil (5-FU)
9 Induction Chemotherapy Followed by Cetuximab Plus Definitive Radiotherapy Versus Radiation Plus Cisplatin Unknown status NCT00999700 Phase 3 docetaxel - cisplatin - 5-fluorouracil;cetuximab;cisplatin
10 A Randomized, Open-label, Multi-center Phase III Study Designed to Evaluate the Safety and Efficacy of E10A in Patients With Recurrent/Unresectable Squamous Cell Carcinoma of the Head and Neck Region Unknown status NCT02630264 Phase 3 Endostatins;Paclitaxel injection;Cisplatin injection
11 Controlled Randomized Trial to Evaluate Efficacy of Adjuvant Chemotherapy Between S-1 and UFT for Locally Advanced Squamous Cell Carcinoma of the Head and Neck: Phase III Study Unknown status NCT00336947 Phase 3 tegafur-gimeracil-oteracil potassium;tegafur-uracil
12 A RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE EFFECT OF CISPLATIN/EPINEPHRINE INJECTABLE GEL (PRODUCT MPI 5010) WHEN ADMINISTERED INTRATUMORALLY FOR ACHIEVEMENT OF TREATMENT GOALS IN RECURRENT OR REFRACTORY SQUAMOUS CELL CARCINOMA OF THE HEAD AND NECK Unknown status NCT00002659 Phase 3 cisplatin-e therapeutic implant
13 SCT-I10A Combined With Standard Chemotherapy Versus Placebo Combined With Standard Chemotherapy in First-line Recurrent/ Metastatic Head and Neck Squamous Cell Carcinoma (HNSCC): A Phase III, Multicenter, Randomized, Double-blinded Trial Unknown status NCT04146402 Phase 3 SCT-I10A+chemo;Placebos+chemo
14 Postoperative Radiation and Concurrent Chemotherapy With Weekly Docetaxel Versus Cisplatin in Patients With High Risk Squamous Cell Carcinoma of Head & Neck: a Randomized Multi-center Phase III Clinical Trial Unknown status NCT02923258 Phase 2, Phase 3 Docetaxel;Cisplatinum
15 Randomised Clinical Phase III Study of Radiotherapy Dose, Volume Evaluation for 3DCRT Versus IGRT and Analysis of Early Response in Head and Neck Squamous Cell Carcinoma Unknown status NCT01124409 Phase 3
16 RANDOMIZED TRIAL OF NEOADJUVANT CHEMOTHERAPY AND SURGERY +/- RADIOTHERAPY VERSUS SURGEERY +/- RADIOTHERAPY IN OPERABLE SQUAMOUS CELL CARCINOMA OF THE ORAL CAVITY Unknown status NCT00002747 Phase 3 cisplatin;fluorouracil
17 Multicentre Randomised Trial of Inductive and Adjuvant Perilymphatically Injected Proleukin (rlL-2) in The Treatment of Operable Primary Squamous Cell Carcinoma of The Oral Cavity and Oropharynx Unknown status NCT00002702 Phase 3
18 A Phase III Randomized, Open-label, Multi-center, Global Study of MEDI4736 Alone or in Combination With Tremelimumab Versus Standard of Care in the Treatment of First-line Recurrent or Metastatic Squamous Cell Head and Neck Cancer Patients Completed NCT02551159 Phase 3 5-fluorouracil (5FU);Cisplatin;Carboplatin
19 An Open Label, Randomized Phase 3 Clinical Trial of Nivolumab vs Therapy of Investigator's Choice in Recurrent or Metastatic Platinum-refractory Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT02105636 Phase 3 Nivolumab;Cetuximab;Methotrexate;Docetaxel
20 Phase I/II Trial of Erlotinib, Radiation Therapy, and Cisplatin in Patients With Complete Resected Squamous Cell Carcinoma of the Head and Neck Completed NCT00442455 Phase 3 Erlotinib chlorhydrate;Cisplatin
21 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study of Nivolumab or Nivolumab Plus Cisplatin, in Combination With Radiotherapy in Participants With Cisplatin Ineligible and Cisplatin Eligible Locally Advanced Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT03349710 Phase 3 Cetuximab;Cisplatin
22 Open-label, Single-arm, Multicenter, Phase III Trial to Assess the Antitumor Activity and Safety of Cetuximab When Given in Combination With Radiotherapy for the Treatment of Locally Advanced Squamous Cell Carcinoma of the Head and Neck in Chinese Subjects Completed NCT01012258 Phase 3
23 A Phase III Randomised, Stratified, Parallel-Group, Multi-Centre, Comparative Study of ZD1839 (Iressa®) 250 Mg and 500 Mg Versus Methotrexate for Previously Treated Patients With Squamous Cell Carcinoma of the Head and Neck Completed NCT00206219 Phase 3 Gefitinib;methotrexate
24 A Phase III Randomized, Open-Label, Multi-Center, Global Study of MEDI4736 Monotherapy and MEDI4736 in Combination With Tremelimumab Versus Standard of Care Therapy in Patients With Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT02369874 Phase 3 MEDI4736;MEDI4736 + Tremelimumab;Standard of Care
25 Open-label, Single-arm, Multicenter, Phase III Trial to Assess the Antitumor Activity and Safety Profile of Cetuximab When Given in Combination With Chemotherapy for the First-line Treatment of Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck in Asian Subjects Completed NCT01177956 Phase 3 Cisplatin;5-Fluorouracil
26 An Open Label, Randomized, Two Arm Phase III Study of Nivolumab in Combination With Ipilimumab Versus Extreme Study Regimen (Cetuximab + Cisplatin/Carboplatin + Fluorouracil) as First Line Therapy in Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT02741570 Phase 3 Cetuximab/Erbitux;Cisplatin/Platinol;Carboplatin/Paraplatin;Fluorouracil/Adrucil
27 Phase III Randomized Comparison of Radiotherapy Fractionation in Advanced Squamous Cell Carcinoma of the Head and Neck: Twice-Daily Hyperfractionation vs Split-Course Accelerated Hyperfractionation vs Accelerated Fractionation With Concomitant Boost vs Standard Fractionation Completed NCT00771641 Phase 3
28 A Randomised, Double-Blind, Placebo-Controlled, Multi-centre, Phase III Study of Post-Operative Adjuvant Lapatinib or Placebo and Concurrent Chemoradiotherapy Followed by Maintenance Lapatinib or Placebo Monotherapy in High-Risk Subjects With Resected Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT00424255 Phase 3 Lapatinib
29 A Phase III Study of Standard Fractionation Radiotherapy With Concurrent High-Dose Cisplatin Versus Accelerated Fractionation Radiotherapy With Panitumumab in Patients With Locally Advanced Stage III and IV Squamous Cell Carcinoma of the Head and Neck Completed NCT00820248 Phase 3 cisplatin
30 A Randomized Phase II-III Multicenter Trial of Docetaxel Plus Cisplatin and Docetaxel Plus 5-FU Versus Cisplatin Plus 5-FU in 1st Line Treatment of Patients With Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck. Completed NCT00401323 Phase 2, Phase 3 docetaxel (XRP6976);cisplatin;5-fluorouracil (5-FU)
31 DAHANCA 19: A Randomized Study of the Importance of the EGFr-Inhibitor Zalutumumab for the Outcome After Primary Curative Radiotherapy for Squamous Cell Carcinoma of the Head and Neck Completed NCT00496652 Phase 3 Zalutumumab
32 A Phase 3 Randomized Trial of Chemotherapy With or Without Panitumumab in Patients With Metastatic and/or Recurrent Squamous Cell Carcinoma of the Head and Neck (SCCHN) Completed NCT00460265 Phase 3 ARM 2;ARM 1
33 Cetuximab in Combination With Cisplatin or Carboplatin and 5-Fluorouracil in the First Line Treatment of Subjects With Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck Completed NCT00122460 Phase 3 Cetuximab + Platinum (Cisplatin or Carboplatin) + 5Fluorouracil (5-FU);Platinum (Cisplatin or Carboplatin) + 5-FU
34 A Pivotal, Double-Blind, Randomized, Placebo-Controlled, Multinational Study of SGX942 (Dusquetide) for the Treatment of Oral Mucositis in Patients Being Treated With Concomitant Chemoradiation for the Treatment of Squamous Cell Carcinoma of the Head and Neck Completed NCT03237325 Phase 3 SGX942;Placebo
35 Neoadjuvant Docetaxel+Cisplatin and 5-fluorouracil (TPF) Followed by Radiotherapy+Concomitant Chemo or Cetuximab Versus Radiotherapy+Concomitant Chemo or Cetuximab in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck. A Randomized Phase III Factorial Study. Completed NCT01086826 Phase 3 RT+CDDP/5-FU;RT+CETUXIMAB;INDUCTION CTx(TPF)+(RT+CDDP/5-FU);INDUCTION CTx(TPF)+(RT+CETUXIMAB)
36 A Randomized Phase III Multicenter Trial of Neoadjuvant Docetaxel (Taxotere) Plus Cisplatin Plus 5-Fluorouracil Versus Neoadjuvant Cisplatin Plus 5-Fluorouracil in Patients With Locally Advanced Inoperable Squamous Cell Carcinoma of the Head and Neck Completed NCT00003888 Phase 3 cisplatin;docetaxel;fluorouracil
37 A Multicenter, Randomized, Open-label, Phase III Trial to Assess Efficacy and Safety of Cetuximab When Given in Combination With Cisplatin Plus 5 Fluorouracil Versus Cisplatin Plus 5-fluorouracil Alone for the First-line Treatment of Chinese Subjects With Recurrent and/or Metastatic Squamous Cell Carcinoma of the Head and Neck Completed NCT02383966 Phase 3 Cetuximab;Cisplatin/Carboplatin;5-fluorouracil
38 Post-operative Concurrent Chemo-radiotherapy Versus Post-operative Radiotherapy in High-risk Cutaneous Squamous Cell Carcinoma of the Head and Neck Completed NCT00193895 Phase 3 Carboplatin
39 A Randomized Phase III Multicenter Trial of Neoadjuvant Docetaxel (Taxotere®) Plus Cisplatin and 5-Fluorouracil (TPF) Versus Neoadjuvant Cisplatin Plus 5-Fluorouracil Followed by Concomitant Chemoradiotherapy to Improve the Overall Survival and Progression Free Survival in Patients With Locally Advanced Squamous Cell Carcinoma of the Head and Neck Completed NCT00273546 Phase 3 XRP6976 (Docetaxel/Taxotere)
40 Phase III Intergroup Trial of Surgery Followed by (1) Radiotherapy vs. (2) Radiochemotherapy For Resectable High Risk Squamous Cell Carcinoma of the Head and Neck Completed NCT00002670 Phase 3 chemotherapy;cisplatin
41 An Open-label, Randomized, Parallel-group, Multicenter Study of Neoadjuvant Docetaxel(Taxotere®) Plus Cisplatin Plus 5-fluorouracil Versus Neoadjuvant Cisplatin Plus 5-fluorouracil in Patients With Locally Advanced Inoperable Squamous Cell Carcinoma of the Head and Neck Completed NCT00995293 Phase 3 DOCETAXEL;CISPLATIN;5-FLUOROURACIL
42 Phase III Randomized Trial of Methotrexate vs. Paclitaxel in Cisplatin-Ineligible Patients With Advanced Squamous Cell Carcinoma of the Head and Neck Completed NCT00003592 Phase 3 methotrexate;paclitaxel
43 Phase III Study of IV Vinflunine in Combination With Methotrexate Versus Methotrexate Alone in Patients With Recurrent or Metastatic Squamous Cell Carcinoma of the Head and Neck Previously Treated With Platinum-based Chemotherapy Completed NCT02347332 Phase 3 Vinflunine;Methotrexate
44 A Randomized, Double-blind, Placebo-controlled Phase III Study, to Evaluate the Efficacy of Afatinib (BIBW2992) in Maintenance Therapy After Post- Operative Radio-chemotherapy in Squamous-cell Carcinoma of the Head and Neck: GORTEC 2010-02 Completed NCT01427478 Phase 3 AFATINIB;Placebo of AFATINIB
45 Randomized, Double-blind, Multicenter Two-Stage Adaptive Phase 3 Study of Intravenous Administration of REOLYSIN (Reovirus Type 3 Dearing) in Combination With Paclitaxel and Carboplatin Versus the Chemotherapy Alone in Patients With Metastatic or Recurrent Squamous Cell Carcinoma of the Head and Neck Who Have Progressed on or After Prior Platinum-Based Chemotherapy Completed NCT01166542 Phase 3 Carboplatin;Paclitaxel;Placebo
46 A Phase III Randomized Double-blind Study of Prophylactic Topical Dapsone 5% Gel Versus Moisturizer for Cetuximab-induced Papulopustular (Acneiform) Rash in Patients With mCRC or HNSCC Without Previous or Concurrent RT Completed NCT01931150 Phase 3 Topical Dapsone 5% Gel;oral antibiotics
47 Non Inferiority Randomized Trial of Standard Radiotherapy Versus Hypofractionated Split Course Radiotherapy in Elderly Vulnerable Patients With Inoperable Head and Neck Squamous Cell Carcinoma Completed NCT01864850 Phase 3
48 A Randomised Placebo-controlled Trial of Synchronous NIMorazole Versus RADiotherapy Alone in Patients With Locally Advanced Head and Neck Squamous Cell Carcinoma Not Suitable for Synchronous Chemotherapy or Cetuximab) Completed NCT01950689 Phase 3 Nimorazole
49 Phase III Randomized Trial of Concomitant Radiation, Cisplatin, and Tirapazamine Versus Concomitant Radiation and Cisplatin in Patients With Advanced Head and Neck Cancer Completed NCT00174837 Phase 3 Tirapazamine;Cisplatin
50 Phase III Trial Comparing Conventional RT With Concomitant CT Versus Accelerated RT With Concomitant CT Versus Very Accelerated RT Alone in Patients With Head and Neck Squamous Cell Carcinoma Completed NCT00158652 Phase 3 5FU, Paraplatin

Search NIH Clinical Center for Squamous Cell Carcinoma, Head and Neck

Genetic Tests for Squamous Cell Carcinoma, Head and Neck

Genetic tests related to Squamous Cell Carcinoma, Head and Neck:

# Genetic test Affiliating Genes
1 Squamous Cell Carcinoma of the Head and Neck 28 ING1 TNFRSF10B

Anatomical Context for Squamous Cell Carcinoma, Head and Neck

Organs/tissues related to Squamous Cell Carcinoma, Head and Neck:

MalaCards : Lymph Node, Salivary Gland, Tongue, Lung, Skin, Liver, T Cells

Publications for Squamous Cell Carcinoma, Head and Neck

Articles related to Squamous Cell Carcinoma, Head and Neck:

(show top 50) (show all 20439)
# Title Authors PMID Year
1
Detection of new PTEN/MMAC1 mutations in head and neck squamous cell carcinomas with loss of chromosome 10. 62 57 5
11801303 2002
2
Genomic structure of the human ING1 gene and tumor-specific mutations detected in head and neck squamous cell carcinomas. 62 57 5
10866301 2000
3
Rare loss-of-function mutation of a death receptor gene in head and neck cancer. 62 57 5
9721851 1998
4
Investigational EGFR-targeted therapy in head and neck squamous cell carcinoma. 53 62 5
20415598 2010
5
Rare driver mutations in head and neck squamous cell carcinomas converge on NOTCH signaling. 62 57
32165588 2020
6
The mutational landscape of head and neck squamous cell carcinoma. 62 57
21798893 2011
7
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. 62 57
21798897 2011
8
Epidermal growth factor receptor (EGFR) and squamous cell carcinoma of the skin: molecular bases for EGFR-targeted therapy. 62 5
21531084 2011
9
Defects in cell growth regulation by C18:0-ceramide and longevity assurance gene 1 in human head and neck squamous cell carcinomas. 62 57
15317812 2004
10
Microsatellite alterations in serum DNA of head and neck cancer patients. 62 57
8782464 1996
11
Nucleotide variants and protein expression of TP53 in a Sri Lankan cohort of patients with head and neck cancer. 5
30816478 2019
12
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 5
26619011 2016
13
Comprehensive genomic characterization of head and neck squamous cell carcinomas. 57
25631445 2015
14
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 5
25157968 2014
15
Identification of a microRNA signature associated with progression of leukoplakia to oral carcinoma. 57
19776030 2009
16
MicroRNA expression ratio is predictive of head and neck squamous cell carcinoma. 62 46
19351747 2009
17
Low-level expression of microRNAs let-7d and miR-205 are prognostic markers of head and neck squamous cell carcinoma. 62 46
19179615 2009
18
Detection of metastatic head and neck squamous cell carcinoma using the relative expression of tissue-specific mir-205. 62 46
19043531 2008
19
MicroRNA alterations in head and neck squamous cell carcinoma. 62 46
18798260 2008
20
High mobility group A2 is a target for miRNA-98 in head and neck squamous cell carcinoma. 62 46
17222355 2007
21
An expression profile for diagnosis of lymph node metastases from primary head and neck squamous cell carcinomas. 57
15640797 2005
22
Functional evidence for a squamous cell carcinoma mortality gene(s) on human chromosome 4. 57
12140764 2002
23
Resistance of human squamous carcinoma cells to transforming growth factor beta 1 is a recessive trait. 57
8327510 1993
24
Expression of CC-chemokine receptor 7 (CCR7) and CXC-chemokine receptor 4 (CXCR4) in head and neck squamous cell carcinoma. 53 62
20036791 2010
25
Expression of cyclooxygenase-2 and microsomal prostagalandin E synthase-1 in head and neck squamous cell carcinoma. 53 62
20034753 2010
26
Effect of age on the association between p16CDKN2A methylation and DNMT3B polymorphism in head and neck carcinoma and patient survival. 53 62
20514408 2010
27
EGFR targeting drugs in the treatment of head and neck squamous cell carcinoma. 53 62
20415599 2010
28
Expression and mutation analysis of her2 in head and neck squamous cell carcinoma. 53 62
20014947 2010
29
Molecular and clinical responses in a pilot study of gefitinib with paclitaxel and radiation in locally advanced head-and-neck cancer. 53 62
19879702 2010
30
Phase II prospective trial of gefitinib given concurrently with cisplatin and radiotherapy in patients with locally advanced head and neck cancer. 53 62
20470671 2010
31
Pre-radiation enhances the cytotoxicity of docetaxel in head and neck squamous cell carcinoma cells. 53 62
20372849 2010
32
TGFbeta1 genetic polymorphism is associated with survival in head and neck squamous cell carcinoma independent of the severity of chemoradiotherapy induced mucositis. 53 62
20308003 2010
33
Honokiol inhibits epidermal growth factor receptor signaling and enhances the antitumor effects of epidermal growth factor receptor inhibitors. 53 62
20388852 2010
34
Dendritic cells pulsed with GST-EGFR fusion protein: effect in antitumor immunity against head and neck squamous cell carcinoma. 53 62
19787789 2010
35
The role of ZEB1 in the inflammation-induced promotion of EMT in HNSCC. 53 62
20416468 2010
36
New strategies in head and neck cancer: understanding resistance to epidermal growth factor receptor inhibitors. 53 62
20406834 2010
37
TrkB induces EMT and has a key role in invasion of head and neck squamous cell carcinoma. 53 62
20101235 2010
38
p90 ribosomal S6 kinase 2 promotes invasion and metastasis of human head and neck squamous cell carcinoma cells. 53 62
20234090 2010
39
Biological and clinical relevance of transcriptionally active human papillomavirus (HPV) infection in oropharynx squamous cell carcinoma. 53 62
19795456 2010
40
Nuclear localization of signal transducer and activator of transcription 3 in head and neck squamous cell carcinoma is associated with a better prognosis. 53 62
20371693 2010
41
Expression profiles and clinical correlations of degradome components in the tumor microenvironment of head and neck squamous cell carcinoma. 53 62
20305301 2010
42
Nuclear Survivin expression is correlated with malignant behaviors of head and neck cancer together with Aurora-B. 53 62
20138567 2010
43
Mechanisms of resistance to HER family targeting antibodies. 53 62
20064507 2010
44
Genetic alterations between primary head and neck squamous cell carcinoma and recurrence after radiotherapy: recurrence, genetically related cancer, or second primary? 53 62
20087960 2010
45
LIMD1 is more frequently altered than RB1 in head and neck squamous cell carcinoma: clinical and prognostic implications. 53 62
20226061 2010
46
BIIB021, a novel Hsp90 inhibitor, sensitizes head and neck squamous cell carcinoma to radiotherapy. 53 62
19662650 2010
47
Head and neck cancer radiosensitization by the novel poly(ADP-ribose) polymerase inhibitor GPI-15427. 53 62
19672867 2010
48
Differential expression of VEGF121, VEGF165 and VEGF189 in angiomas and squamous cell carcinoma cell lines of the head and neck. 53 62
20393000 2010
49
Expression of Stat3 and Notch1 is associated with cisplatin resistance in head and neck squamous cell carcinoma. 53 62
20127005 2010
50
TKTL1 is activated by promoter hypomethylation and contributes to head and neck squamous cell carcinoma carcinogenesis through increased aerobic glycolysis and HIF1alpha stabilization. 53 62
20103683 2010

Variations for Squamous Cell Carcinoma, Head and Neck

ClinVar genetic disease variations for Squamous Cell Carcinoma, Head and Neck:

5 (show top 50) (show all 390)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF10B NM_003842.5(TNFRSF10B):c.1150_1151dup (p.Met385fs) MICROSAT Pathogenic
6194 GRCh37: 8:22880355-22880356
GRCh38: 8:23022842-23022843
2 PTEN NM_000314.8(PTEN):c.362C>G (p.Ala121Gly) SNV Pathogenic
7842 rs121909237 GRCh37: 10:89692878-89692878
GRCh38: 10:87933121-87933121
3 ING1 NM_198219.3(ING1):c.644G>C (p.Cys215Ser) SNV Pathogenic
8067 rs121909250 GRCh37: 13:111372083-111372083
GRCh38: 13:110719736-110719736
4 ING1 NM_198219.3(ING1):c.647A>G (p.Asn216Ser) SNV Pathogenic
8068 rs121909251 GRCh37: 13:111372086-111372086
GRCh38: 13:110719739-110719739
5 ING1 NM_198219.3(ING1):c.575C>A (p.Ala192Asp) SNV Pathogenic
8069 rs121909252 GRCh37: 13:111372014-111372014
GRCh38: 13:110719667-110719667
6 TP53 NM_000546.6(TP53):c.422G>T (p.Cys141Phe) SNV Pathogenic
376568 rs587781288 GRCh37: 17:7578508-7578508
GRCh38: 17:7675190-7675190
7 TP53 NM_000546.6(TP53):c.383del (p.Pro128fs) DEL Pathogenic
659670 rs1597371666 GRCh37: 17:7578547-7578547
GRCh38: 17:7675229-7675229
8 TP53 NM_000546.6(TP53):c.646G>C (p.Val216Leu) SNV Pathogenic
406596 rs730882025 GRCh37: 17:7578203-7578203
GRCh38: 17:7674885-7674885
9 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic
12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
10 TP53 NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) SNV Pathogenic
127819 rs121912666 GRCh37: 17:7578190-7578190
GRCh38: 17:7674872-7674872
11 TP53 NM_000546.6(TP53):c.578A>G (p.His193Arg) SNV Pathogenic
184979 rs786201838 GRCh37: 17:7578271-7578271
GRCh38: 17:7674953-7674953
12 TP53 NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV Pathogenic
12364 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
13 TP53 NM_000546.6(TP53):c.713dup (p.Cys238fs) DUP Pathogenic
803307 rs1597365075 GRCh37: 17:7577567-7577568
GRCh38: 17:7674249-7674250
14 TP53 NM_000546.6(TP53):c.1010G>A (p.Arg337His) SNV Pathogenic
12379 rs121912664 GRCh37: 17:7574017-7574017
GRCh38: 17:7670699-7670699
15 TP53 NM_000546.6(TP53):c.493C>T (p.Gln165Ter) SNV Pathogenic
182930 rs730882001 GRCh37: 17:7578437-7578437
GRCh38: 17:7675119-7675119
16 TP53 NM_000546.6(TP53):c.637C>T (p.Arg213Ter) SNV Pathogenic
43590 rs397516436 GRCh37: 17:7578212-7578212
GRCh38: 17:7674894-7674894
17 TP53 NM_000546.6(TP53):c.455C>T (p.Pro152Leu) SNV Pathogenic
142766 rs587782705 GRCh37: 17:7578475-7578475
GRCh38: 17:7675157-7675157
18 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic
12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
19 TP53 NM_000546.6(TP53):c.747G>T (p.Arg249Ser) SNV Pathogenic
12352 rs28934571 GRCh37: 17:7577534-7577534
GRCh38: 17:7674216-7674216
20 TP53 NM_000546.6(TP53):c.542G>A (p.Arg181His) SNV Likely Pathogenic
142320 rs397514495 GRCh37: 17:7578388-7578388
GRCh38: 17:7675070-7675070
21 TP53 NM_000546.6(TP53):c.473G>C (p.Arg158Pro) SNV Likely Pathogenic
246118 rs587782144 GRCh37: 17:7578457-7578457
GRCh38: 17:7675139-7675139
22 DPYD DEL Likely Pathogenic
694356 GRCh37: 1:97658804-98058774
GRCh38:
23 PIK3CA NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) SNV Likely Pathogenic
376497 rs1057519941 GRCh37: 3:178921549-178921549
GRCh38: 3:179203761-179203761
24 TP53 NM_000546.6(TP53):c.836G>A (p.Gly279Glu) SNV Likely Pathogenic
419454 rs1064793881 GRCh37: 17:7577102-7577102
GRCh38: 17:7673784-7673784
25 TP53 NM_000546.6(TP53):c.718A>G (p.Ser240Gly) SNV Likely Pathogenic
584921 rs1567549584 GRCh37: 17:7577563-7577563
GRCh38: 17:7674245-7674245
26 TP53 NM_000546.6(TP53):c.487T>C (p.Tyr163His) SNV Likely Pathogenic
376680 rs786203436 GRCh37: 17:7578443-7578443
GRCh38: 17:7675125-7675125
27 TP53 NM_000546.6(TP53):c.518T>A (p.Val173Glu) SNV Likely Pathogenic
376669 rs1057519747 GRCh37: 17:7578412-7578412
GRCh38: 17:7675094-7675094
28 TP53 NM_000546.6(TP53):c.584T>A (p.Ile195Asn) SNV Likely Pathogenic
376618 rs760043106 GRCh37: 17:7578265-7578265
GRCh38: 17:7674947-7674947
29 TP53 NM_000546.6(TP53):c.845G>C (p.Arg282Pro) SNV Likely Pathogenic
376659 rs730882008 GRCh37: 17:7577093-7577093
GRCh38: 17:7673775-7673775
30 TP53 NM_000546.6(TP53):c.725G>T (p.Cys242Phe) SNV Likely Pathogenic
376578 rs121912655 GRCh37: 17:7577556-7577556
GRCh38: 17:7674238-7674238
31 TP53 NM_000546.6(TP53):c.844C>G (p.Arg282Gly) SNV Likely Pathogenic
140821 rs28934574 GRCh37: 17:7577094-7577094
GRCh38: 17:7673776-7673776
32 TP53 NM_000546.6(TP53):c.722C>G (p.Ser241Cys) SNV Likely Pathogenic
177791 rs28934573 GRCh37: 17:7577559-7577559
GRCh38: 17:7674241-7674241
33 TP53 NM_000546.6(TP53):c.734G>C (p.Gly245Ala) SNV Likely Pathogenic
265357 rs121912656 GRCh37: 17:7577547-7577547
GRCh38: 17:7674229-7674229
34 TP53 NM_000546.6(TP53):c.843C>G (p.Asp281Glu) SNV Likely Pathogenic
376587 rs1057519984 GRCh37: 17:7577095-7577095
GRCh38: 17:7673777-7673777
35 TP53 NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) SNV Likely Pathogenic
376679 rs786203436 GRCh37: 17:7578443-7578443
GRCh38: 17:7675125-7675125
36 TP53 NM_000546.6(TP53):c.833C>G (p.Pro278Arg) SNV Likely Pathogenic
376644 rs876659802 GRCh37: 17:7577105-7577105
GRCh38: 17:7673787-7673787
37 CDKN2A NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) SNV Likely Pathogenic
376381 rs34968276 GRCh37: 9:21971109-21971109
GRCh38: 9:21971110-21971110
38 TP53 NM_000546.6(TP53):c.841G>A (p.Asp281Asn) SNV Likely Pathogenic
376586 rs764146326 GRCh37: 17:7577097-7577097
GRCh38: 17:7673779-7673779
39 TP53 NM_000546.6(TP53):c.833C>A (p.Pro278His) SNV Likely Pathogenic
376646 rs876659802 GRCh37: 17:7577105-7577105
GRCh38: 17:7673787-7673787
40 TP53 NM_000546.6(TP53):c.745A>T (p.Arg249Trp) SNV Likely Pathogenic
141881 rs587782082 GRCh37: 17:7577536-7577536
GRCh38: 17:7674218-7674218
41 TP53 NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) SNV Likely Pathogenic
127814 rs148924904 GRCh37: 17:7578442-7578442
GRCh38: 17:7675124-7675124
42 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Likely Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
43 TP53 NM_000546.6(TP53):c.646G>A (p.Val216Met) SNV Likely Pathogenic
182965 rs730882025 GRCh37: 17:7578203-7578203
GRCh38: 17:7674885-7674885
44 CDKN2A NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) SNV Likely Pathogenic
77637 rs121913386 GRCh37: 9:21971017-21971017
GRCh38: 9:21971018-21971018
45 TP53 NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) SNV Likely Pathogenic
182935 rs730882005 GRCh37: 17:7577568-7577568
GRCh38: 17:7674250-7674250
46 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Likely Pathogenic
12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
47 TP53 NM_000546.6(TP53):c.526T>C (p.Cys176Arg) SNV Likely Pathogenic
376573 rs967461896 GRCh37: 17:7578404-7578404
GRCh38: 17:7675086-7675086
48 TP53 NM_000546.6(TP53):c.845G>A (p.Arg282Gln) SNV Likely Pathogenic
237956 rs730882008 GRCh37: 17:7577093-7577093
GRCh38: 17:7673775-7673775
49 TP53 NM_000546.6(TP53):c.535C>G (p.His179Asp) SNV Likely Pathogenic
376610 rs587780070 GRCh37: 17:7578395-7578395
GRCh38: 17:7675077-7675077
50 TP53 NM_000546.6(TP53):c.423C>G (p.Cys141Trp) SNV Likely Pathogenic
376564 rs1057519977 GRCh37: 17:7578507-7578507
GRCh38: 17:7675189-7675189

UniProtKB/Swiss-Prot genetic disease variations for Squamous Cell Carcinoma, Head and Neck:

73
# Symbol AA change Variation ID SNP ID
1 ING1 p.Ala335Asp VAR_017420
2 ING1 p.Cys358Ser VAR_017421
3 ING1 p.Asn359Ser VAR_017422
4 ING3 p.Asp20Gly VAR_021263
5 PTEN p.Ala121Gly VAR_018103 rs121909237

Cosmic variations for Squamous Cell Carcinoma, Head and Neck:

8 (show top 50) (show all 755)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM143943797 TP53 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 59
2 COSM142560281 TP53 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 59
3 COSM144087106 TP53 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 59
4 COSM144310203 TP53 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 59
5 COSM142837352 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 59
6 COSM105620276 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 59
7 COSM143156843 TP53 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 59
8 COSM122271559 TP53 skin,neck,carcinoma,squamous cell carcinoma c.347G>A p.R116Q 17:7674220-7674220 59
9 COSM111758576 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 59
10 COSM87898351 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 59
11 COSM121875983 TP53 skin,neck,carcinoma,squamous cell carcinoma c.347G>A p.R116Q 17:7674220-7674220 59
12 COSM122734176 TP53 skin,neck,carcinoma,squamous cell carcinoma c.347G>A p.R116Q 17:7674220-7674220 59
13 COSM133256111 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1040C>T p.S347F 9:99146601-99146601 59
14 COSM97906895 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1016C>T p.S339F 9:99146601-99146601 59
15 COSM135128838 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1259C>T p.S420F 9:99146601-99146601 59
16 COSM97922732 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1247C>T p.S416F 9:99146601-99146601 59
17 COSM84678061 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 59
18 COSM98728167 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 59
19 COSM107058787 RARA skin,neck,carcinoma,squamous cell carcinoma c.1093C>T p.P365S 17:40356221-40356221 59
20 COSM98724263 RARA skin,neck,carcinoma,squamous cell carcinoma c.1432C>T p.P478S 17:40356221-40356221 59
21 COSM86828717 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 59
22 COSM98707797 RARA skin,neck,carcinoma,squamous cell carcinoma c.1369C>T p.P457S 17:40356221-40356221 59
23 COSM94496058 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 59
24 COSM133940534 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 59
25 COSM107373333 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 59
26 COSM130526023 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 59
27 COSM96948694 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
28 COSM97161923 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
29 COSM96619514 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
30 COSM97161935 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
31 COSM144156675 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.473G>A p.G158E 20:42352227-42352227 59
32 COSM96619533 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
33 COSM93273665 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
34 COSM96721565 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
35 COSM96835332 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
36 COSM142597931 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.454C>T p.S152L 20:42352239-42352239 59
37 COSM144156682 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.461C>T p.S154L 20:42352239-42352239 59
38 COSM97061657 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
39 COSM96835350 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
40 COSM96721578 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
41 COSM96948708 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
42 COSM93273656 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 59
43 COSM97061670 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 59
44 COSM142597920 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.466G>A p.G156E 20:42352227-42352227 59
45 COSM101904169 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 59
46 COSM92948518 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 59
47 COSM132595830 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1243C>T p.P415S 9:8518130-8518130 59
48 COSM132601883 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1718G>A p.S573N 9:8504347-8504347 59
49 COSM132313437 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 59
50 COSM102248340 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1706G>A p.S569N 9:8504347-8504347 59

Copy number variations for Squamous Cell Carcinoma, Head and Neck from CNVD:

6 (show all 42)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 33952 1 50700000 61300000 Amplification head and neck squamous cell carcinoma
2 71135 12 67700000 71500000 Amplification head and neck squamous cell carcinoma
3 78639 13 55300000 73300000 Amplification head and neck squamous cell carcinoma
4 90904 15 25700000 28100000 Amplification head and neck squamous cell carcinoma
5 93784 15 59100000 59300000 Copy number MET head and neck squamous cell carcinoma
6 118006 17 7505821 7531588 LOH TP53 head and neck squamous cell carcinoma
7 119192 18 1 7100000 Amplification head and neck squamous cell carcinoma
8 119790 18 17200000 19000000 Amplification head and neck squamous cell carcinoma
9 166134 3 1 87900000 Loss head and neck squamous cell carcinoma
10 167635 3 121900000 167600000 Gain head and neck squamous cell carcinoma
11 169556 3 142800000 148900000 Amplification head and neck squamous cell carcinoma
12 171486 3 168801287 168851758 Amplification MECOM head and neck squamous cell carcinoma
13 171495 3 168867391 169381563 Amplification MECOM head and neck squamous cell carcinoma
14 172487 3 182700000 187900000 Amplification RFC4 head and neck squamous cell carcinoma
15 174746 12 7773277 7793336 Deletion CLEC4C head and neck squamous cell carcinoma
16 179443 3 91000000 121900000 Gain head and neck squamous cell carcinoma
17 179973 4 1 50400000 Loss head and neck squamous cell carcinoma
18 204736 6 114600000 171115067 Gain head and neck squamous cell carcinoma
19 217049 7 1 159138663 Copy number head and neck squamous cell carcinoma
20 225369 7 45400000 54000000 Gain EGFR head and neck squamous cell carcinoma
21 225383 7 45400000 54000000 Amplification EGFR head and neck squamous cell carcinoma
22 225403 7 45400000 54000000 Copy number EGFR head and neck squamous cell carcinoma
23 225404 7 45400000 54000000 Copy number EGFR head and neck squamous cell carcinoma
24 225408 7 45400000 54000000 Deletion or amplification EGFR head and neck squamous cell carcinoma
25 225413 7 45400000 58000000 Amplification head and neck squamous cell carcinoma
26 226532 7 58000000 59900000 Amplification head and neck squamous cell carcinoma
27 232747 8 119200000 122500000 Gain MYC head and neck squamous cell carcinoma
28 233769 8 127300000 139900000 Gain KHDRBS3 head and neck squamous cell carcinoma
29 234876 8 139900000 146364022 Gain PTK2 head and neck squamous cell carcinoma
30 234895 8 139900000 146364022 Gain PTP4A3 head and neck squamous cell carcinoma
31 238011 8 28800000 45600000 Amplification head and neck squamous cell carcinoma
32 239988 8 43100000 45600000 Amplification head and neck squamous cell carcinoma
33 240109 8 45600000 146364022 Gain GPAA1 head and neck squamous cell carcinoma
34 241899 8 68000000 70500000 Amplification head and neck squamous cell carcinoma
35 243677 8 86900000 101600000 Amplification RUNX1T1 head and neck squamous cell carcinoma
36 249984 9 19900000 25500000 Deletion CDKN2A head and neck squamous cell carcinoma
37 300518 11 95351087 95715992 Methylation MAML2 head and neck squamous cell carcinoma
38 300530 12 123374913 123617963 Methylation NCOR2 head and neck squamous cell carcinoma
39 300892 14 72672931 72756862 Methylation PSEN1 head and neck squamous cell carcinoma
40 300893 14 72811670 72995039 Methylation NUMB head and neck squamous cell carcinoma
41 302931 19 45863651 45888396 Methylation NUMBL head and neck squamous cell carcinoma
42 303261 20 10566331 10602694 Methylation JAG1 head and neck squamous cell carcinoma

Expression for Squamous Cell Carcinoma, Head and Neck

LifeMap Discovery
Genes differentially expressed in tissues of Squamous Cell Carcinoma, Head and Neck patients vs. healthy controls: 35 (show all 15)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MMP1 matrix metallopeptidase 1 Head Mesenchyme + 5.25 0.000
2 TMPRSS11B transmembrane serine protease 11B Head Mesenchyme - 4.81 0.000
3 CRISP3 cysteine rich secretory protein 3 Head Mesenchyme - 4.48 0.000
4 MAL mal, T cell differentiation protein Head Mesenchyme - 4.39 0.000
5 INHBA inhibin subunit beta A Head Mesenchyme + 4.13 0.000
6 CRNN cornulin Head Mesenchyme - 4.00 0.000
7 KRT17 keratin 17 Head Mesenchyme + 3.94 0.000
8 KRT4 keratin 4 Head Mesenchyme - 3.41 0.000
9 PTHLH parathyroid hormone like hormone Head Mesenchyme + 3.36 0.000
10 CTHRC1 collagen triple helix repeat containing 1 Head Mesenchyme + 3.32 0.000
11 CLCA4 chloride channel accessory 4 Head Mesenchyme - 3.31 0.000
12 WDR72 WD repeat domain 72 Head Mesenchyme + 3.23 0.000
13 MMP10 matrix metallopeptidase 10 Head Mesenchyme + 3.14 0.001
14 TGM3 transglutaminase 3 Head Mesenchyme - 3.08 0.000
15 GBP1 guanylate binding protein 1 Head Mesenchyme + 3.06 0.000
Search GEO for disease gene expression data for Squamous Cell Carcinoma, Head and Neck.

Pathways for Squamous Cell Carcinoma, Head and Neck



Pathways directly related to Squamous Cell Carcinoma, Head and Neck:

# Pathway Source
1 Defective pyroptosis Reactome 66

Pathways related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.6 TP53 TNFRSF10B PTEN
2 11.45 TP53 PTEN ING1
3 11.16 TP53 MIR210 MIR21
4 10.64 TP53 TNFRSF10B PTEN
5 10.3 TP53 TNFRSF10B PRKD1

GO Terms for Squamous Cell Carcinoma, Head and Neck

Biological processes related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 9.88 PTEN MIR31 MIR21 ING1
2 positive regulation of angiogenesis GO:0045766 9.77 PRKD1 MIR31 MIR210 MIR21
3 positive regulation of blood vessel endothelial cell migration GO:0043536 9.62 PRKD1 MIR31 MIR210
4 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.26 MIR210 MIR21
5 negative regulation of BMP secretion GO:2001285 9.16 MIR98 MIR210
6 negative regulation of superoxide dismutase activity GO:1901670 8.96 MIR21 H19
7 miRNA-mediated gene silencing by inhibition of translation GO:0035278 8.92 MIR98 MIR31 MIR210 MIR21

Molecular functions related to Squamous Cell Carcinoma, Head and Neck according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 9.26 MIR98 MIR31 MIR210 MIR21
2 mRNA 3'-UTR binding GO:0003730 9.1 TP53 MIR98 MIR31 MIR210 MIR21

Sources for Squamous Cell Carcinoma, Head and Neck

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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