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Melanoma, cutaneous malignant, susceptibility to, 5(CMM5)

MedGen UID:
416516
Concept ID:
C2751295
Finding
Synonym: Cutaneous malignant melanoma 5
 
Gene (location): MC1R (16q24.3)
 
Monarch Initiative: MONDO:0013133
OMIM®: 613099

Definition

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). For a discussion of genetic heterogeneity of malignant melanoma, see 155600. [from OMIM]

Professional guidelines

PubMed

Arnaut JRMB, Guimarães IDS, Dos Santos ACE, Rodrigues EM, Machado JRDS, de Melo AC
Int J Dermatol 2023 Aug;62(8):1060-1066. Epub 2023 Jun 15 doi: 10.1111/ijd.16742. PMID: 37322831
Serman N, Vranic S, Glibo M, Serman L, Bukvic Mokos Z
Bosn J Basic Med Sci 2022 Sep 16;22(5):673-682. doi: 10.17305/bjbms.2021.7378. PMID: 35465855Free PMC Article
Aspinwall LG, Stump TK, Taber JM, Kohlmann W, Leaf SL, Leachman SA
J Behav Med 2015 Oct;38(5):754-65. Epub 2015 Mar 31 doi: 10.1007/s10865-015-9631-8. PMID: 25822116Free PMC Article

Recent clinical studies

Etiology

Strashilov S, Yordanov A
Int J Mol Sci 2021 Jun 15;22(12) doi: 10.3390/ijms22126395. PMID: 34203771Free PMC Article
Landi MT, Bishop DT, MacGregor S, Machiela MJ, Stratigos AJ, Ghiorzo P, Brossard M, Calista D, Choi J, Fargnoli MC, Zhang T, Rodolfo M, Trower AJ, Menin C, Martinez J, Hadjisavvas A, Song L, Stefanaki I, Scolyer R, Yang R, Goldstein AM, Potrony M, Kypreou KP, Pastorino L, Queirolo P, Pellegrini C, Cattaneo L, Zawistowski M, Gimenez-Xavier P, Rodriguez A, Elefanti L, Manoukian S, Rivoltini L, Smith BH, Loizidou MA, Del Regno L, Massi D, Mandala M, Khosrotehrani K, Akslen LA, Amos CI, Andresen PA, Avril MF, Azizi E, Soyer HP, Bataille V, Dalmasso B, Bowdler LM, Burdon KP, Chen WV, Codd V, Craig JE, Dębniak T, Falchi M, Fang S, Friedman E, Simi S, Galan P, Garcia-Casado Z, Gillanders EM, Gordon S, Green A, Gruis NA, Hansson J, Harland M, Harris J, Helsing P, Henders A, Hočevar M, Höiom V, Hunter D, Ingvar C, Kumar R, Lang J, Lathrop GM, Lee JE, Li X, Lubiński J, Mackie RM, Malt M, Malvehy J, McAloney K, Mohamdi H, Molven A, Moses EK, Neale RE, Novaković S, Nyholt DR, Olsson H, Orr N, Fritsche LG, Puig-Butille JA, Qureshi AA, Radford-Smith GL, Randerson-Moor J, Requena C, Rowe C, Samani NJ, Sanna M, Schadendorf D, Schulze HJ, Simms LA, Smithers M, Song F, Swerdlow AJ, van der Stoep N, Kukutsch NA, Visconti A, Wallace L, Ward SV, Wheeler L, Sturm RA, Hutchinson A, Jones K, Malasky M, Vogt A, Zhou W, Pooley KA, Elder DE, Han J, Hicks B, Hayward NK, Kanetsky PA, Brummett C, Montgomery GW, Olsen CM, Hayward C, Dunning AM, Martin NG, Evangelou E, Mann GJ, Long G, Pharoah PDP, Easton DF, Barrett JH, Cust AE, Abecasis G, Duffy DL, Whiteman DC, Gogas H, De Nicolo A, Tucker MA, Newton-Bishop JA; GenoMEL Consortium; Q-MEGA and QTWIN Investigators; ATHENS Melanoma Study Group; 23andMe; SDH Study Group; IBD Investigators; Essen-Heidelberg Investigators; AMFS Investigators; MelaNostrum Consortium, Peris K, Chanock SJ, Demenais F, Brown KM, Puig S, Nagore E, Shi J, Iles MM, Law MH
Nat Genet 2020 May;52(5):494-504. Epub 2020 Apr 27 doi: 10.1038/s41588-020-0611-8. PMID: 32341527Free PMC Article
Natarajan E
Head Neck Pathol 2019 Mar;13(1):56-70. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01008-2. PMID: 30693458Free PMC Article
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886

Diagnosis

Luo M, Wei B
Skin Res Technol 2024 May;30(5):e13737. doi: 10.1111/srt.13737. PMID: 38769705Free PMC Article
Lebensohn A, Ghafoor A, Bloomquist L, Royer MC, Castelo-Soccio L, Karacki K, Hathaway O, Maglo T, Wagner C, Agra MG, Blakely AM, Schrump DS, Hassan R, Cowen EW
JAMA Dermatol 2024 Aug 1;160(8):838-845. doi: 10.1001/jamadermatol.2024.1804. PMID: 38759225Free PMC Article
Natarajan E
Head Neck Pathol 2019 Mar;13(1):56-70. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01008-2. PMID: 30693458Free PMC Article
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886

Therapy

Zhang Z, Wang J, Teng M, Yan X, Liu Q
Int Immunopharmacol 2024 Aug 20;137:112520. Epub 2024 Jun 19 doi: 10.1016/j.intimp.2024.112520. PMID: 38901247
Luo M, Wei B
Skin Res Technol 2024 May;30(5):e13737. doi: 10.1111/srt.13737. PMID: 38769705Free PMC Article
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297
Pho LN, Leachman SA
G Ital Dermatol Venereol 2010 Feb;145(1):37-45. PMID: 20197744

Prognosis

Repo PE, Backlund MP, Kivelä TT, Turunen JA
Hum Mol Genet 2024 Feb 18;33(5):426-434. doi: 10.1093/hmg/ddad193. PMID: 37956408Free PMC Article
Riobello C, Casanueva Muruais R, Suárez-Fernández L, García-Marín R, Cabal VN, Blanco-Lorenzo V, Franchi A, Laco J, López F, Llorente JL, Hermsen MA
Pigment Cell Melanoma Res 2022 Jan;35(1):88-96. Epub 2021 Oct 8 doi: 10.1111/pcmr.13015. PMID: 34547192
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297
Ward KA, Lazovich D, Hordinsky MK
J Am Acad Dermatol 2012 Nov;67(5):1055-67. Epub 2012 May 13 doi: 10.1016/j.jaad.2012.02.042. PMID: 22583682

Clinical prediction guides

Zhang Z, Wang J, Teng M, Yan X, Liu Q
Int Immunopharmacol 2024 Aug 20;137:112520. Epub 2024 Jun 19 doi: 10.1016/j.intimp.2024.112520. PMID: 38901247
Goldstein AM, Stidd KC, Yang XR, Fraser MC, Tucker MA
Cancer 2018 Sep 15;124(18):3715-3723. Epub 2018 Sep 12 doi: 10.1002/cncr.31641. PMID: 30207590Free PMC Article
Chintalacheruvu LM, Shaw T, Buddam A, Diab O, Kassim T, Mukherjee S, Lynch HT
J Gastrointestin Liver Dis 2017 Jun;26(2):157-163. doi: 10.15403/jgld.2014.1121.262.maj. PMID: 28617886
Nikolaou V, Stratigos AJ
Br J Dermatol 2014 Jan;170(1):11-9. doi: 10.1111/bjd.12492. PMID: 23815297
Ward KA, Lazovich D, Hordinsky MK
J Am Acad Dermatol 2012 Nov;67(5):1055-67. Epub 2012 May 13 doi: 10.1016/j.jaad.2012.02.042. PMID: 22583682

Recent systematic reviews

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
Mohammadreza Niktabar S, Alireza Dastgheib S, Heiranizadeh N, Kargar S, Raee-Ezzabadi A, Jarahzadeh MH, Mohsen Miresmaeili S, Zare-Shehneh M, Neamatzadeh H
Klin Onkol 2020 Spring;33(3):184-194. doi: 10.14735/amko2020184. PMID: 32683874

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