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Genetic Predisposition to Melanoma

MedGen UID:
1792159
•Concept ID:
C5555718
•
Finding

Definition

An inherited condition caused by mutation(s) in the CDKN2A or CDK4 genes, encoding cyclin-dependent kinase inhibitor 2A and cyclin-dependent kinase 4, respectively. The condition is characterized by an increased risk of developing melanoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic Predisposition to Melanoma

Professional guidelines

PubMed

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE
Breast 2022 Oct;65:32-40. Epub 2022 Jun 18 doi: 10.1016/j.breast.2022.06.003. PMID: 35772246Free PMC Article
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article
Uveal melanoma: From diagnosis to treatment and the science in between.
Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP
Cancer 2016 Aug 1;122(15):2299-312. Epub 2016 Mar 15 doi: 10.1002/cncr.29727. PMID: 26991400Free PMC Article

Recent clinical studies

Etiology

Molecular Markers and Targets in Melanoma.
Teixido C, Castillo P, Martinez-Vila C, Arance A, Alos L
Cells 2021 Sep 5;10(9) doi: 10.3390/cells10092320. PMID: 34571969Free PMC Article
Aetiology and Pathogenesis of Cutaneous Melanoma: Current Concepts and Advances.
Strashilov S, Yordanov A
Int J Mol Sci 2021 Jun 15;22(12) doi: 10.3390/ijms22126395. PMID: 34203771Free PMC Article
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
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article
Uveal melanoma: From diagnosis to treatment and the science in between.
Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP
Cancer 2016 Aug 1;122(15):2299-312. Epub 2016 Mar 15 doi: 10.1002/cncr.29727. PMID: 26991400Free PMC Article

Diagnosis

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.
Garutti M, Foffano L, Mazzeo R, Michelotti A, Da Ros L, Viel A, Miolo G, Zambelli A, Puglisi F
Genes (Basel) 2023 Apr 30;14(5) doi: 10.3390/genes14051025. PMID: 37239385Free PMC Article
Skin Cancer Associated Genodermatoses: A Literature Review.
Schierbeck J, Vestergaard T, Bygum A
Acta Derm Venereol 2019 Apr 1;99(4):360-369. doi: 10.2340/00015555-3123. PMID: 30653245
Uveal melanoma: From diagnosis to treatment and the science in between.
Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP
Cancer 2016 Aug 1;122(15):2299-312. Epub 2016 Mar 15 doi: 10.1002/cncr.29727. PMID: 26991400Free PMC Article
Personalised cancer medicine.
Jackson SE, Chester JD
Int J Cancer 2015 Jul 15;137(2):262-6. Epub 2014 May 12 doi: 10.1002/ijc.28940. PMID: 24789362
Malignant melanoma.
Slominski A, Wortsman J, Carlson AJ, Matsuoka LY, Balch CM, Mihm MC
Arch Pathol Lab Med 2001 Oct;125(10):1295-306. doi: 10.5858/2001-125-1295-MM. PMID: 11570904

Therapy

Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities.
McGrath IM, Montgomery GW, Mortlock S
Hum Reprod Update 2023 Sep 5;29(5):655-674. doi: 10.1093/humupd/dmad009. PMID: 37159502Free PMC Article
Common and rare variant associations with clonal haematopoiesis phenotypes.
Kessler MD, Damask A, O'Keeffe S, Banerjee N, Li D, Watanabe K, Marketta A, Van Meter M, Semrau S, Horowitz J, Tang J, Kosmicki JA, Rajagopal VM, Zou Y, Houvras Y, Ghosh A, Gillies C, Mbatchou J, White RR, Verweij N, Bovijn J, Parikshak NN, LeBlanc MG, Jones M; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration, Glass DJ, Lotta LA, Cantor MN, Atwal GS, Locke AE, Ferreira MAR, Deering R, Paulding C, Shuldiner AR, Thurston G, Ferrando AA, Salerno W, Reid JG, Overton JD, Marchini J, Kang HM, Baras A, Abecasis GR, Jorgenson E
Nature 2022 Dec;612(7939):301-309. Epub 2022 Nov 30 doi: 10.1038/s41586-022-05448-9. PMID: 36450978Free PMC Article
Molecular Markers and Targets in Melanoma.
Teixido C, Castillo P, Martinez-Vila C, Arance A, Alos L
Cells 2021 Sep 5;10(9) doi: 10.3390/cells10092320. PMID: 34571969Free PMC Article
Melanoma Genomics.
Newton-Bishop J, Bishop DT, Harland M
Acta Derm Venereol 2020 Jun 3;100(11):adv00138. doi: 10.2340/00015555-3493. PMID: 32346746Free PMC Article
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

Prognosis

Molecular Markers and Targets in Melanoma.
Teixido C, Castillo P, Martinez-Vila C, Arance A, Alos L
Cells 2021 Sep 5;10(9) doi: 10.3390/cells10092320. PMID: 34571969Free PMC Article
The mutational landscape of mucosal melanoma.
Nassar KW, Tan AC
Semin Cancer Biol 2020 Apr;61:139-148. Epub 2019 Oct 23 doi: 10.1016/j.semcancer.2019.09.013. PMID: 31655118Free PMC Article
Uveal melanoma: From diagnosis to treatment and the science in between.
Chattopadhyay C, Kim DW, Gombos DS, Oba J, Qin Y, Williams MD, Esmaeli B, Grimm EA, Wargo JA, Woodman SE, Patel SP
Cancer 2016 Aug 1;122(15):2299-312. Epub 2016 Mar 15 doi: 10.1002/cncr.29727. PMID: 26991400Free PMC Article
Personalised cancer medicine.
Jackson SE, Chester JD
Int J Cancer 2015 Jul 15;137(2):262-6. Epub 2014 May 12 doi: 10.1002/ijc.28940. PMID: 24789362
Malignant melanoma.
Slominski A, Wortsman J, Carlson AJ, Matsuoka LY, Balch CM, Mihm MC
Arch Pathol Lab Med 2001 Oct;125(10):1295-306. doi: 10.5858/2001-125-1295-MM. PMID: 11570904

Clinical prediction guides

Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, Pagani O, Goldhirsch A, Partridge AH, Lambertini M, Garber JE
Breast 2022 Oct;65:32-40. Epub 2022 Jun 18 doi: 10.1016/j.breast.2022.06.003. PMID: 35772246Free PMC Article
The mutational landscape of mucosal melanoma.
Nassar KW, Tan AC
Semin Cancer Biol 2020 Apr;61:139-148. Epub 2019 Oct 23 doi: 10.1016/j.semcancer.2019.09.013. PMID: 31655118Free PMC Article
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P
Cancer Metastasis Rev 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. PMID: 28283772Free PMC Article
BRAF V600E mutation-specific antibody: A review.
Ritterhouse LL, Barletta JA
Semin Diagn Pathol 2015 Sep;32(5):400-8. Epub 2015 Feb 7 doi: 10.1053/j.semdp.2015.02.010. PMID: 25744437
Malignant melanoma.
Slominski A, Wortsman J, Carlson AJ, Matsuoka LY, Balch CM, Mihm MC
Arch Pathol Lab Med 2001 Oct;125(10):1295-306. doi: 10.5858/2001-125-1295-MM. PMID: 11570904

Recent systematic reviews

Prognosis of CDKN2A germline mutation in patients with familial melanoma: a systematic review and meta-analysis.
Taibo A, Paradela S, Suanzes-Hernández J, Balboa-Barreiro V, Amado-Bouza J, Fonseca E
Melanoma Res 2024 Feb 1;34(1):9-15. Epub 2023 Nov 2 doi: 10.1097/CMR.0000000000000920. PMID: 37924530
Meta-Analysis and Systematic Review of the Genomics of Mucosal Melanoma.
Broit N, Johansson PA, Rodgers CB, Walpole ST, Newell F, Hayward NK, Pritchard AL
Mol Cancer Res 2021 Jun;19(6):991-1004. Epub 2021 Mar 11 doi: 10.1158/1541-7786.MCR-20-0839. PMID: 33707307
Metaanalysis of BRAF mutations and clinicopathologic characteristics in primary melanoma.
Kim SY, Kim SN, Hahn HJ, Lee YW, Choe YB, Ahn KJ
J Am Acad Dermatol 2015 Jun;72(6):1036-46.e2. Epub 2015 Mar 25 doi: 10.1016/j.jaad.2015.02.1113. PMID: 25819940
Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr
PLoS One 2013;8(4):e59709. Epub 2013 Apr 1 doi: 10.1371/journal.pone.0059709. PMID: 23573208Free PMC Article
DNA repair gene polymorphisms and risk of cutaneous melanoma: a systematic review and meta-analysis.
Mocellin S, Verdi D, Nitti D
Carcinogenesis 2009 Oct;30(10):1735-43. Epub 2009 Aug 25 doi: 10.1093/carcin/bgp207. PMID: 19706646

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