Details of Disease

General Information of Disease (ID: DIS7K3AI)

• Disease Name: Oropharyngeal carcinoma
• Synonyms: oropharyngeal cancer; oropharyngeal throat cancer; cancer of oropharynx; cancer of the oropharynx; oropharyngeal carcinoma; oropharynx carcinoma; carcinoma of the oropharynx; carcinoma of oropharynx
• Definition: Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx.
• Disease Hierarchy:
  DISDAMTJ: Oropharyngeal cancer
  DISH9F1N: Carcinoma
  DISOU1DS: Head and neck carcinoma
  DISKPWNX: Carcinoma of pharynx
  DIS7K3AI: Oropharyngeal carcinoma
• Disease Identifiers:
  MONDO ID: MONDO_0044926
  MESH ID: D009959
  UMLS CUI: C2349952
  MedGen ID: 379086

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GALR1	TTX3HNZ	Strong	Biomarker	[1]
GALR2	TTBPW3J	Strong	Biomarker	[1]
GRHL2	TTUGH4C	Strong	Altered Expression	[2]
HLA-DQA1	TTU2I3J	Strong	Genetic Variation	[3]
HLA-DRB1	TTUXSTW	Strong	Altered Expression	[4]
KCNC4	TTODZF1	Strong	Genetic Variation	[3]
SIRPA	TTBRJS9	Strong	Altered Expression	[4]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH1B	DEEN9RD	Strong	Genetic Variation	[3]
ADH5	DEIOH6A	Strong	Genetic Variation	[5]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APOBEC3A	OTYO6F5P	Limited	Biomarker	[6]
NDRG1	OTVO66BO	Limited	Biomarker	[7]
RRM2B	OTE8GBUR	Limited	Biomarker	[8]
DEFB103B	OT8RWY64	Strong	Altered Expression	[9]
DSP	OTB2MOP8	Strong	Altered Expression	[10]
E2F4	OTB3JFH4	Strong	Altered Expression	[11]
EPB41L3	OTS6CHG2	Strong	Genetic Variation	[12]
HLA-DQB1	OTVVI3UI	Strong	Genetic Variation	[3]
MED15	OT0D0JVD	Strong	Biomarker	[13]
NEIL2	OTV6JEON	Strong	Genetic Variation	[14]
PEG3	OTHQW98S	Strong	Posttranslational Modification	[15]
PPAN	OT0UFQBZ	Strong	Biomarker	[16]
SIAH1	OT29A838	Strong	Biomarker	[17]

References

• [1] Site-specific methylation patterns of the GAL and GALR1/2 genes in head and neck cancer: Potential utility as biomarkers for prognosis.Mol Carcinog. 2017 Mar;56(3):1107-1116. doi: 10.1002/mc.22577. Epub 2016 Nov 1.
• [2] Human Papillomavirus 16 E6 Induces FoxM1B in Oral Keratinocytes through GRHL2.J Dent Res. 2018 Jul;97(7):795-802. doi: 10.1177/0022034518756071. Epub 2018 Feb 14.
• [3] Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.Nat Genet. 2016 Dec;48(12):1544-1550. doi: 10.1038/ng.3685. Epub 2016 Oct 17.
• [4] Genetic Mutation and Exosome Signature of Human Papilloma Virus Associated Oropharyngeal Cancer.Sci Rep. 2017 Apr 6;7:46102. doi: 10.1038/srep46102.
• [5] Laryngeal and oropharyngeal cancer, and alcohol dehydrogenase 3 and glutathione S-transferase M1 polymorphisms.Hum Genet. 1997 Mar;99(3):319-25. doi: 10.1007/s004390050365.
• [6] Expression of estrogen receptor alpha is associated with pathogenesis and prognosis of human papillomavirus-positive oropharyngeal cancer.Int J Cancer. 2019 Sep 15;145(6):1547-1557. doi: 10.1002/ijc.32500. Epub 2019 Jun 22.
• [7] Prognostic significance of NDRG1 expression in oral and oropharyngeal squamous cell carcinoma.Mol Biol Rep. 2012 Dec;39(12):10157-65. doi: 10.1007/s11033-012-1889-0. Epub 2012 Sep 13.
• [8] p53R2 inhibits the proliferation of human cancer cells in association with cell-cycle arrest.Mol Cancer Ther. 2011 Feb;10(2):269-78. doi: 10.1158/1535-7163.MCT-10-0728. Epub 2011 Jan 7.
• [9] Human papillomavirus oncogenic E6 protein regulates human -defensin 3 (hBD3) expression via the tumor suppressor protein p53.Oncotarget. 2016 May 10;7(19):27430-44. doi: 10.18632/oncotarget.8443.
• [10] Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.Hum Pathol. 2009 Sep;40(9):1320-9. doi: 10.1016/j.humpath.2009.02.002. Epub 2009 Apr 22.
• [11] Proteomic analysis of oropharyngeal carcinomas reveals novel HPV-associated biological pathways.Int J Cancer. 2013 Feb 1;132(3):568-79. doi: 10.1002/ijc.27699. Epub 2012 Jul 20.
• [12] Methylation of HPV 16 and EPB41L3 in oral gargles: Associations with oropharyngeal cancer detection and tumor characteristics.Int J Cancer. 2020 Feb 15;146(4):1018-1030. doi: 10.1002/ijc.32570. Epub 2019 Jul 26.
• [13] Promoter Hypermethylation of Tumor-Suppressor Genes p16(INK4a),RASSF1A,TIMP3, and PCQAP/MED15 in Salivary DNA as a Quadruple Biomarker Panel for Early Detection of Oral and Oropharyngeal Cancers.Biomolecules. 2019 Apr 12;9(4):148. doi: 10.3390/biom9040148.
• [14] Functional variants of the NEIL1 and NEIL2 genes and risk and progression of squamous cell carcinoma of the oral cavity and oropharynx.Clin Cancer Res. 2008 Jul 1;14(13):4345-52. doi: 10.1158/1078-0432.CCR-07-5282.
• [15] Hypermethylation of a cluster of Krppel-type zinc finger protein genes on chromosome 19q13 in oropharyngeal squamous cell carcinoma.Am J Pathol. 2011 May;178(5):1965-74. doi: 10.1016/j.ajpath.2011.01.049.
• [16] Accuracy of the HPV status site-specific factor 10 (SSF-10) variable for patients with oropharyngeal cancers in the Iowa Cancer Registry, 2010-2014.Head Neck. 2018 Oct;40(10):2199-2209. doi: 10.1002/hed.25314. Epub 2018 Jun 22.
• [17] Activation of Wnt signaling pathway by human papillomavirus E6 and E7 oncogenes in HPV16-positive oropharyngeal squamous carcinoma cells.Mol Cancer Res. 2010 Mar;8(3):433-43. doi: 10.1158/1541-7786.MCR-09-0345. Epub 2010 Mar 9.