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Predisposition to UV-induced malignancies

MedGen UID:
863115
•Concept ID:
C4014678
•
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPredisposition to UV-induced malignancies

Professional guidelines

PubMed

Modulation of repair of ultraviolet damage in the host-cell reactivation assay by polymorphic XPC and XPD/ERCC2 genotypes.
Qiao Y, Spitz MR, Shen H, Guo Z, Shete S, Hedayati M, Grossman L, Mohrenweiser H, Wei Q
Carcinogenesis 2002 Feb;23(2):295-9. doi: 10.1093/carcin/23.2.295. PMID: 11872635

Recent clinical studies

Etiology

Mechanisms and prevention of UV-induced melanoma.
Sample A, He YY
Photodermatol Photoimmunol Photomed 2018 Jan;34(1):13-24. Epub 2017 Aug 2 doi: 10.1111/phpp.12329. PMID: 28703311Free PMC Article
KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.
Zhang X, Luo S, Wu J, Zhang L, Wang WH, Degan S, Erdmann D, Hall R, Zhang JY
J Invest Dermatol 2017 Feb;137(2):475-483. Epub 2016 Oct 7 doi: 10.1016/j.jid.2016.09.023. PMID: 27725201Free PMC Article
Skin precancer.
Brash DE, Pontén J
Cancer Surv 1998;32:69-113. PMID: 10489624
Melanin: a two edged sword?
Hill HZ, Li W, Xin P, Mitchell DL
Pigment Cell Res 1997 Jun;10(3):158-61. doi: 10.1111/j.1600-0749.1997.tb00478.x. PMID: 9266603
Inherited defects in DNA repair and susceptibility to DNA-damaging agents.
Hansson J
Toxicol Lett 1992 Dec;64-65 Spec No:141-8. doi: 10.1016/0378-4274(92)90183-k. PMID: 1471167

Diagnosis

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.
Lam HC, Nijmeh J, Henske EP
J Pathol 2017 Jan;241(2):219-225. Epub 2016 Nov 29 doi: 10.1002/path.4827. PMID: 27753446Free PMC Article
Autophagic UVRAG Promotes UV-Induced Photolesion Repair by Activation of the CRL4(DDB2) E3 Ligase.
Yang Y, He S, Wang Q, Li F, Kwak MJ, Chen S, O'Connell D, Zhang T, Pirooz SD, Jeon YH, Chimge NO, Frenkel B, Choi Y, Aldrovandi GM, Oh BH, Yuan Z, Liang C
Mol Cell 2016 May 19;62(4):507-19. doi: 10.1016/j.molcel.2016.04.014. PMID: 27203177Free PMC Article
Photobiological Origins of the Field of Genomic Maintenance.
Ganesan A, Hanawalt P
Photochem Photobiol 2016 Jan-Feb;92(1):52-60. Epub 2015 Dec 16 doi: 10.1111/php.12542. PMID: 26481112Free PMC Article
Melanin: a two edged sword?
Hill HZ, Li W, Xin P, Mitchell DL
Pigment Cell Res 1997 Jun;10(3):158-61. doi: 10.1111/j.1600-0749.1997.tb00478.x. PMID: 9266603
Inherited defects in DNA repair and susceptibility to DNA-damaging agents.
Hansson J
Toxicol Lett 1992 Dec;64-65 Spec No:141-8. doi: 10.1016/0378-4274(92)90183-k. PMID: 1471167

Therapy

MC1R Functions, Expression, and Implications for Targeted Therapy.
Guida S, Guida G, Goding CR
J Invest Dermatol 2022 Feb;142(2):293-302.e1. Epub 2021 Aug 4 doi: 10.1016/j.jid.2021.06.018. PMID: 34362555
Mechanisms and prevention of UV-induced melanoma.
Sample A, He YY
Photodermatol Photoimmunol Photomed 2018 Jan;34(1):13-24. Epub 2017 Aug 2 doi: 10.1111/phpp.12329. PMID: 28703311Free PMC Article
KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage.
Zhang X, Luo S, Wu J, Zhang L, Wang WH, Degan S, Erdmann D, Hall R, Zhang JY
J Invest Dermatol 2017 Feb;137(2):475-483. Epub 2016 Oct 7 doi: 10.1016/j.jid.2016.09.023. PMID: 27725201Free PMC Article
Molecular regulation of UV-induced DNA repair.
Shah P, He YY
Photochem Photobiol 2015 Mar-Apr;91(2):254-64. Epub 2015 Jan 14 doi: 10.1111/php.12406. PMID: 25534312Free PMC Article
T4 endonuclease V: review and application to dermatology.
Cafardi JA, Elmets CA
Expert Opin Biol Ther 2008 Jun;8(6):829-38. doi: 10.1517/14712598.8.6.829. PMID: 18476794

Prognosis

Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells.
Yeom M, Hong JK, Shin JH, Lee Y, Guengerich FP, Choi JY
Int J Mol Sci 2023 Mar 8;24(6) doi: 10.3390/ijms24065198. PMID: 36982269Free PMC Article
Canine Melanomas as Models for Human Melanomas: Clinical, Histological, and Genetic Comparison.
Prouteau A, André C
Genes (Basel) 2019 Jun 30;10(7) doi: 10.3390/genes10070501. PMID: 31262050Free PMC Article
The genomic landscape of childhood and adolescent melanoma.
Lu C, Zhang J, Nagahawatte P, Easton J, Lee S, Liu Z, Ding L, Wyczalkowski MA, Valentine M, Navid F, Mulder H, Tatevossian RG, Dalton J, Davenport J, Yin Z, Edmonson M, Rusch M, Wu G, Li Y, Parker M, Hedlund E, Shurtleff S, Raimondi S, Bhavin V, Donald Y, Mardis ER, Wilson RK, Evans WE, Ellison DW, Pounds S, Dyer M, Downing JR, Pappo A, Bahrami A
J Invest Dermatol 2015 Mar;135(3):816-823. Epub 2014 Sep 30 doi: 10.1038/jid.2014.425. PMID: 25268584Free PMC Article
Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches.
Lehmann J, Schubert S, Emmert S
J Dtsch Dermatol Ges 2014 Oct;12(10):867-72. doi: 10.1111/ddg.12419. PMID: 25262888
p53 mutations as a marker of skin cancer risk: comparison of UVA and UVB effects.
de Gruijl FR
Exp Dermatol 2002;11 Suppl 1:37-9. doi: 10.1034/j.1600-0625.11.s.1.9.x. PMID: 12444958

Clinical prediction guides

The mTOR-inhibitor Sirolimus decreases the cyclosporine-induced expression of the oncogene ATF3 in human keratinocytes.
Schaper-Gerhardt K, Walter A, Schmitz-Rode C, Satzger I, Gutzmer R
J Dermatol Sci 2018 Nov;92(2):172-180. Epub 2018 Sep 5 doi: 10.1016/j.jdermsci.2018.08.013. PMID: 30220530
Differential activity of UV-DDB in mouse keratinocytes and fibroblasts: impact on DNA repair and UV-induced skin cancer.
Pines A, Backendorf C, Alekseev S, Jansen JG, de Gruijl FR, Vrieling H, Mullenders LH
DNA Repair (Amst) 2009 Feb 1;8(2):153-61. Epub 2008 Dec 4 doi: 10.1016/j.dnarep.2008.09.011. PMID: 18996499
p53 mutations as a marker of skin cancer risk: comparison of UVA and UVB effects.
de Gruijl FR
Exp Dermatol 2002;11 Suppl 1:37-9. doi: 10.1034/j.1600-0625.11.s.1.9.x. PMID: 12444958
Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.
van Hoffen A, Kalle WH, de Jong-Versteeg A, Lehmann AR, van Zeeland AA, Mullenders LH
Nucleic Acids Res 1999 Jul 15;27(14):2898-904. doi: 10.1093/nar/27.14.2898. PMID: 10390531Free PMC Article
Skin precancer.
Brash DE, Pontén J
Cancer Surv 1998;32:69-113. PMID: 10489624

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