Details of Disease

General Information of Disease (ID: DISUZREN)

• Disease Name: Skin carcinoma
• Synonyms: zone of skin carcinoma; skin carcinoma; skin cancer, non-melanoma; nonmelanoma skin cancer; non-melanoma skin cancer; non-melanoma cancer of the skin; non-melanoma cancer of skin; carcinoma of zone of skin; carcinoma of the skin; carcinoma of skin
• Definition: A carcinoma that arises from epithelial cells of the zone of skin
• Disease Hierarchy:
  DISTM18U: Skin cancer
  DISH9F1N: Carcinoma
  DISBTRI0: Epithelial skin neoplasm
  DISUZREN: Skin carcinoma
• Disease Identifiers:
  MONDO ID: MONDO_0002656
  UMLS CUI: C0699893
  MedGen ID: 195945

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RNASEL	TT7V0K4	Limited	Genetic Variation	[1]
MC1R	TT0MV2T	moderate	Genetic Variation	[2]
HAL	TTXQOZW	Strong	Genetic Variation	[3]
HRH2	TTQHJ1K	Strong	Genetic Variation	[3]
NR1H2	TTXA6PH	Strong	Biomarker	[4]
RCE1	TT2AP5B	Strong	Biomarker	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GSTA4	DEH7XYP	Strong	Genetic Variation	[6]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRHL3	OT1V4ZEH	Limited	Genetic Variation	[7]
LRIG2	OTDUBLIH	Limited	Biomarker	[8]
RBP2	OTR8QG5V	moderate	Biomarker	[9]
DMKN	OTRIGZMK	Strong	Biomarker	[10]
INPP5K	OTQFLQKA	Strong	Genetic Variation	[2]
PLEKHM2	OT4ZYV73	Strong	Genetic Variation	[2]
RRBP1	OT4ZTPTM	Strong	Genetic Variation	[11]
SHARPIN	OTU1J2KH	Strong	Genetic Variation	[12]
SNW1	OTKWG3PS	Strong	Genetic Variation	[2]
SPHKAP	OT5RHUYJ	Strong	Genetic Variation	[2]
GNG2	OT05Z3MC	Definitive	Genetic Variation	[13]
IRF4	OT1DHQ1P	Definitive	Genetic Variation	[13]
SASH1	OTQA8BD4	Definitive	Genetic Variation	[14]

References

• [1] Sex-specific effect of RNASEL rs486907 and miR-146a rs2910164 polymorphisms' interaction as a susceptibility factor for melanoma skin cancer.Melanoma Res. 2017 Aug;27(4):309-314. doi: 10.1097/CMR.0000000000000360.
• [2] MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.Br J Cancer. 2015 Jul 14;113(2):354-63. doi: 10.1038/bjc.2015.231. Epub 2015 Jun 23.
• [3] Genetic determinants of UV-susceptibility in non-melanoma skin cancer.PLoS One. 2011;6(7):e20019. doi: 10.1371/journal.pone.0020019. Epub 2011 Jul 8.
• [4] A community-based study of nucleotide excision repair polymorphisms in relation to the risk of non-melanoma skin cancer.J Invest Dermatol. 2012 May;132(5):1354-62. doi: 10.1038/jid.2012.4. Epub 2012 Feb 16.
• [5] Absence of the CAAX endoprotease Rce1: effects on cell growth and transformation.Mol Cell Biol. 2002 Jan;22(1):171-81. doi: 10.1128/MCB.22.1.171-181.2002.
• [6] Evidence that Gsta4 modifies susceptibility to skin tumor development in mice and humans.J Natl Cancer Inst. 2010 Nov 3;102(21):1663-75. doi: 10.1093/jnci/djq392. Epub 2010 Oct 21.
• [7] Threonine 454 phosphorylation in Grainyhead-like 3 is important for its function and regulation by the p38 MAPK pathway.Biochim Biophys Acta Mol Cell Res. 2018 Jul;1865(7):1002-1011. doi: 10.1016/j.bbamcr.2018.04.010. Epub 2018 Apr 25.
• [8] The transmembrane protein LRIG2 increases tumor progression in skin carcinogenesis.Mol Oncol. 2019 Nov;13(11):2476-2492. doi: 10.1002/1878-0261.12579. Epub 2019 Oct 21.
• [9] Loss of CRABP-II Characterizes Human Skin Poorly Differentiated Squamous Cell Carcinomas and Favors DMBA/TPA-Induced Carcinogenesis.J Invest Dermatol. 2016 Jun;136(6):1255-1266. doi: 10.1016/j.jid.2016.01.039. Epub 2016 Mar 2.
• [10] Dermokine contributes to epithelial-mesenchymal transition through increased activation of signal transducer and activator of transcription 3 in pancreatic cancer.Cancer Sci. 2017 Nov;108(11):2130-2141. doi: 10.1111/cas.13347. Epub 2017 Sep 15.
• [11] Cancer recording in patients with and without type 2 diabetes in the Clinical Practice Research Datalink primary care data and linked hospital admission data: a cohort study.BMJ Open. 2018 May 26;8(5):e020827. doi: 10.1136/bmjopen-2017-020827.
• [12] Aberrant expression and high-frequency mutations of SHARPIN in nonmelanoma skin cancer.Exp Ther Med. 2019 Apr;17(4):2746-2756. doi: 10.3892/etm.2019.7261. Epub 2019 Feb 12.
• [13] Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.Hum Mol Genet. 2013 Jul 15;22(14):2948-59. doi: 10.1093/hmg/ddt142. Epub 2013 Apr 1.
• [14] Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma. Eur J Hum Genet. 2015 Jul;23(7):957-62. doi: 10.1038/ejhg.2014.213. Epub 2014 Oct 15.