MCID: SQM009
MIFTS: 29

Squamous Cell Carcinoma, Head and Neck, Somatic malady

Genetic diseases (common), Cancer diseases categories

Summaries for Squamous Cell Carcinoma, Head and Neck, Somatic

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MalaCards based summary: Squamous Cell Carcinoma, Head and Neck, Somatic is related to gemistocytic astrocytoma and gliosarcoma. An important gene associated with Squamous Cell Carcinoma, Head and Neck, Somatic is PTEN (phosphatase and tensin homolog), and among its related pathways are Senescence and Autophagy and FoxO signaling pathway. The compounds panitumumab and taxane have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and cellular.

Description from OMIM:46 275355

Aliases & Classifications for Squamous Cell Carcinoma, Head and Neck, Somatic

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Squamous Cell Carcinoma, Head and Neck, Somatic, Aliases & Descriptions:

Name: Squamous Cell Carcinoma, Head and Neck, Somatic 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common), Cancer diseases


Related Diseases for Squamous Cell Carcinoma, Head and Neck, Somatic

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



Diseases related to squamous cell carcinoma, head and neck, somatic

Symptoms for Squamous Cell Carcinoma, Head and Neck, Somatic

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Clinical features from OMIM:

275355

Drugs & Therapeutics for Squamous Cell Carcinoma, Head and Neck, Somatic

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Drug clinical trials:

Search ClinicalTrials for Squamous Cell Carcinoma, Head and Neck, Somatic

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

Genetic Tests for Squamous Cell Carcinoma, Head and Neck, Somatic

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Anatomical Context for Squamous Cell Carcinoma, Head and Neck, Somatic

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Animal Models for Squamous Cell Carcinoma, Head and Neck, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Squamous Cell Carcinoma, Head and Neck, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.4EGFR, PTEN, TNFRSF10B, ING1
2MP:00053848.4EGFR, PTEN, TNFRSF10B, ING1
3MP:00053978.3ING1, TNFRSF10B, PTEN, EGFR
4MP:00053878.1ING1, TNFRSF10B, PTEN, EGFR

Publications for Squamous Cell Carcinoma, Head and Neck, Somatic

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Variations for Squamous Cell Carcinoma, Head and Neck, Somatic

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

63
id Symbol AA change Variation ID SNP ID
1ING1p.Ala335AspVAR_017420
2ING1p.Cys358SerVAR_017421
3ING1p.Asn359SerVAR_017422
4ING3p.Asp20GlyVAR_021263
5PTENp.Ala121GlyVAR_018103

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

7 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NM_005228.3(EGFR): c.2327G> A (p.Arg776His)single nucleotide variantdrug responsers483352806GRCh37Chr 7, 55249029: 55249029
2EGFRNM_005228.3(EGFR): c.2471G> A (p.Gly824Asp)single nucleotide variantdrug responsers483352808GRCh38Chr 7, 55191720: 55191720
3EGFRNM_005228.3(EGFR): c.2188C> G (p.Leu730Val)single nucleotide variantdrug responsers121913434GRCh37Chr 7, 55242418: 55242418
4NM_005228.3(EGFR): c.2393T> A (p.Leu798His)single nucleotide variantdrug responsers483352807GRCh38Chr 7, 55181402: 55181402
5EGFRNM_005228.3(EGFR): c.2176G> A (p.Val726Met)single nucleotide variantdrug responsers483352805GRCh37Chr 7, 55241728: 55241728
6EGFRNM_005228.3(EGFR): c.2155G> C (p.Gly719Arg)single nucleotide variantLikely pathogenic, drug responsers28929495GRCh37Chr 7, 55241707: 55241707
7TNFRSF10BTNFRSF10B, 2-BP INSinsertionPathogenic
8PTENNM_000314.4(PTEN): c.362C> G (p.Ala121Gly)single nucleotide variantPathogenicrs121909237GRCh37Chr 10, 89692878: 89692878
9ING1NM_198217.2(ING1): c.512G> C (p.Cys171Ser)single nucleotide variantPathogenicrs121909250GRCh37Chr 13, 111372083: 111372083
10ING1NM_198217.2(ING1): c.515A> G (p.Asn172Ser)single nucleotide variantPathogenicrs121909251GRCh37Chr 13, 111372086: 111372086
11ING1NM_198217.2(ING1): c.443C> A (p.Ala148Asp)single nucleotide variantPathogenicrs121909252GRCh37Chr 13, 111372014: 111372014

Expression for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Expression patterns in normal tissues for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

Search GEO for disease gene expression data for Squamous Cell Carcinoma, Head and Neck, Somatic.

Pathways for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Pathways related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PTEN, ING1
2
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.5EGFR, PTEN
3
Show member pathways
Signal transduction PTEN pathway59
9.5PTEN, EGFR
49.5PTEN, EGFR
5
Show member pathways
Signaling Pathways in Glioblastoma37
9.5PTEN, EGFR
6
Show member pathways
Development EGFR signaling via PIP359
Development PDGF signaling via MAPK cascades59
Apoptosis and survival Anti apoptotic action of membrane bound ESR159
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases59
Development Neurotrophin family signaling59
Apoptosis and survival NGF signaling pathway59
Apoptosis and survival Role of CDK5 in neuronal death and survival59
9.5EGFR, PTEN
79.5EGFR, PTEN
8
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
9.5PTEN, EGFR
99.5PTEN, EGFR
109.5PTEN, EGFR
119.5EGFR, PTEN
12
Show member pathways
9.4PTEN, TNFRSF10B
13
Show member pathways
DNA damage response37
9.4PTEN, TNFRSF10B
14
Show member pathways
8.9EGFR, PTEN, TNFRSF10B
15
Show member pathways
8.9EGFR, PTEN, TNFRSF10B
168.9EGFR, PTEN, TNFRSF10B
17
Show member pathways
8.9TNFRSF10B, PTEN, EGFR
18
Show member pathways
8.9TNFRSF10B, PTEN, EGFR

Compounds for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Compounds related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1panitumumab44 50 1211.9PTEN, EGFR
2taxane449.9EGFR, PTEN
3cetuximab44 50 1211.8EGFR, PTEN
4bicalutamide44 60 1211.8EGFR, PTEN
5erlotinib44 50 1211.8PTEN, EGFR
6gw966244 2910.8PTEN, TNFRSF10B
7trastuzumab44 50 1211.8PTEN, EGFR
8gefitinib44 50 1211.7EGFR, PTEN
9topotecan44 1210.7TNFRSF10B, EGFR
10suberoylanilide hydroxamic acid449.6EGFR, TNFRSF10B
11oxaliplatin44 50 1211.6TNFRSF10B, EGFR
12amiloride44 29 1211.6TNFRSF10B, EGFR
13flavopiridol44 1210.6EGFR, TNFRSF10B
14celecoxib44 60 29 50 25 1214.6EGFR, TNFRSF10B
15irinotecan44 50 1211.5TNFRSF10B, EGFR
16imatinib44 50 1211.5EGFR, PTEN
17adpribose449.5TNFRSF10B, EGFR
18ceramide449.4PTEN, TNFRSF10B
19bortezomib44 50 1211.3EGFR, PTEN, TNFRSF10B
20gemcitabine44 50 1211.3EGFR, PTEN, TNFRSF10B
21mg 13244 6010.3EGFR, PTEN, TNFRSF10B
225fluorouracil449.2TNFRSF10B, PTEN, EGFR
23etoposide44 50 60 1212.2PTEN, TNFRSF10B, ING1
24curcumin449.2EGFR, TNFRSF10B
25doxorubicin44 50 1211.2TNFRSF10B, PTEN, EGFR
26cycloheximide449.2EGFR, PTEN, TNFRSF10B
27arsenite44 2510.1PTEN, TNFRSF10B
28estrogen449.1EGFR, PTEN, ING1
29vegf449.1EGFR, PTEN, TNFRSF10B
30retinoic acid44 259.9TNFRSF10B, PTEN, EGFR
31paclitaxel44 50 1210.8EGFR, PTEN, TNFRSF10B, ING1
32cisplatin44 50 60 1211.7ING1, TNFRSF10B, PTEN, EGFR

GO Terms for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Biological processes related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1learning or memoryGO:0076119.6EGFR, PTEN
2phosphatidylinositol-mediated signalingGO:0480159.6EGFR, PTEN
3epidermal growth factor receptor signaling pathwayGO:0071739.5EGFR, PTEN
4cellular response to mechanical stimulusGO:0712609.4EGFR, TNFRSF10B
5fibroblast growth factor receptor signaling pathwayGO:0085439.4EGFR, PTEN
6cell surface receptor signaling pathwayGO:0071669.3TNFRSF10B, EGFR
7Fc-epsilon receptor signaling pathwayGO:0380959.2EGFR, PTEN

Molecular functions related to Squamous Cell Carcinoma, Head and Neck, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1methylated histone residue bindingGO:0350649.1ING3, ING1

Products for genes affiliated with Squamous Cell Carcinoma, Head and Neck, Somatic

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Sources for Squamous Cell Carcinoma, Head and Neck, Somatic

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