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Melanoma, cutaneous malignant, susceptibility to, 4(CMM4)

MedGen UID:: 334129
•Concept ID:: C1842643
•: Finding

Synonyms:	CMM4; Cutaneous malignant melanoma 4

Monarch Initiative:	MONDO:0011954
OMIM®:	608035

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 cutaneous malignant melanoma (CMM), see 155600. [from OMIM]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Pathological process
- Disease
  - Neoplasm
    - Malignant neoplastic disease
      - Hereditary cancer
        Familial melanoma
        Melanoma, cutaneous malignant, susceptibility to, 4

Professional guidelines

PubMed

Genetic testing for familial melanoma.

Primiero CA, Maas EJ, Wallingford CK, Soyer HP, McInerney-Leo AM
Ital J Dermatol Venerol 2024 Feb;159(1):34-42. Epub 2024 Jan 29 doi: 10.23736/S2784-8671.23.07761-7. PMID: 38287743

CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross-sectional descriptive trial.

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

Genetic testing by cancer site: skin.

Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

See all (6)

Recent clinical studies

Etiology

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

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: 38759225 Free PMC Article

The causal effects of atopic dermatitis on the risk of skin cancers: A two-sample Mendelian randomization study.

Luo M, Zheng Y, Zhuo Q, Lin L, Han Y
J Eur Acad Dermatol Venereol 2024 Apr;38(4):703-709. Epub 2023 Nov 27 doi: 10.1111/jdv.19674. PMID: 38009387

Telomere length is associated with increased risk of cutaneous melanoma: a Mendelian randomization study.

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705

Pediatric melanoma in melanoma-prone families.

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: 30207590 Free PMC Article

The genes and genetics of malignant melanoma.

Gibbs P, Brady BM, Robinson WA
J Cutan Med Surg 2002 May-Jun;6(3):229-35. Epub 2002 Apr 15 doi: 10.1007/s10227-001-0037-6. PMID: 11951125

See all (92)

Diagnosis

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

Genetic testing for familial melanoma.

Primiero CA, Maas EJ, Wallingford CK, Soyer HP, McInerney-Leo AM
Ital J Dermatol Venerol 2024 Feb;159(1):34-42. Epub 2024 Jan 29 doi: 10.23736/S2784-8671.23.07761-7. PMID: 38287743

The causal effects of atopic dermatitis on the risk of skin cancers: A two-sample Mendelian randomization study.

Luo M, Zheng Y, Zhuo Q, Lin L, Han Y
J Eur Acad Dermatol Venereol 2024 Apr;38(4):703-709. Epub 2023 Nov 27 doi: 10.1111/jdv.19674. PMID: 38009387

Pediatric melanoma in melanoma-prone families.

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: 30207590 Free PMC Article

Genetic testing by cancer site: skin.

Gabree M, Seidel M
Cancer J 2012 Jul-Aug;18(4):372-80. doi: 10.1097/PPO.0b013e3182624664. PMID: 22846740

See all (50)

Therapy

The causal effects of atopic dermatitis on the risk of skin cancers: A two-sample Mendelian randomization study.

Luo M, Zheng Y, Zhuo Q, Lin L, Han Y
J Eur Acad Dermatol Venereol 2024 Apr;38(4):703-709. Epub 2023 Nov 27 doi: 10.1111/jdv.19674. PMID: 38009387

Telomere length is associated with increased risk of cutaneous melanoma: a Mendelian randomization study.

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705

Pediatric melanoma in melanoma-prone families.

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: 30207590 Free PMC Article

Functional interplay between secreted ligands and receptors in melanoma.

Herraiz C, Jiménez-Cervantes C, Sánchez-Laorden B, García-Borrón JC
Semin Cell Dev Biol 2018 Jun;78:73-84. Epub 2017 Jul 1 doi: 10.1016/j.semcdb.2017.06.021. PMID: 28676423

Ultraviolet Radiations: Skin Defense-Damage Mechanism.

Mohania D, Chandel S, Kumar P, Verma V, Digvijay K, Tripathi D, Choudhury K, Mitten SK, Shah D
Adv Exp Med Biol 2017;996:71-87. doi: 10.1007/978-3-319-56017-5_7. PMID: 29124692

See all (23)

Prognosis

The causal effects of atopic dermatitis on the risk of skin cancers: A two-sample Mendelian randomization study.

Luo M, Zheng Y, Zhuo Q, Lin L, Han Y
J Eur Acad Dermatol Venereol 2024 Apr;38(4):703-709. Epub 2023 Nov 27 doi: 10.1111/jdv.19674. PMID: 38009387

Functional assay for assessment of pathogenicity of BAP1 variants.

Repo PE, Backlund MP, Kivelä TT, Turunen JA
Hum Mol Genet 2024 Feb 18;33(5):426-434. doi: 10.1093/hmg/ddad193. PMID: 37956408 Free PMC Article

Telomere length is associated with increased risk of cutaneous melanoma: a Mendelian randomization study.

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705

POLE mutations in families predisposed to cutaneous melanoma.

Aoude LG, Heitzer E, Johansson P, Gartside M, Wadt K, Pritchard AL, Palmer JM, Symmons J, Gerdes AM, Montgomery GW, Martin NG, Tomlinson I, Kearsey S, Hayward NK
Fam Cancer 2015 Dec;14(4):621-8. doi: 10.1007/s10689-015-9826-8. PMID: 26251183

Clinicopathological characteristics and mutation profiling in primary cutaneous melanoma.

Yaman B, Akalin T, Kandiloğlu G
Am J Dermatopathol 2015 May;37(5):389-97. doi: 10.1097/DAD.0000000000000241. PMID: 25357015

See all (50)

Clinical prediction guides

The causal effects of atopic dermatitis on the risk of skin cancers: A two-sample Mendelian randomization study.

Luo M, Zheng Y, Zhuo Q, Lin L, Han Y
J Eur Acad Dermatol Venereol 2024 Apr;38(4):703-709. Epub 2023 Nov 27 doi: 10.1111/jdv.19674. PMID: 38009387

Telomere length is associated with increased risk of cutaneous melanoma: a Mendelian randomization study.

Liu M, Lan Y, Zhang H, Zhang X, Wu M, Yang L, Zhou J, Tong M, Leng L, Zheng H, Li J, Mi X
Melanoma Res 2023 Dec 1;33(6):475-481. Epub 2023 Aug 25 doi: 10.1097/CMR.0000000000000917. PMID: 37650705

Pediatric melanoma in melanoma-prone families.

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: 30207590 Free PMC Article

POLE mutations in families predisposed to cutaneous melanoma.

The genes and genetics of malignant melanoma.

Gibbs P, Brady BM, Robinson WA
J Cutan Med Surg 2002 May-Jun;6(3):229-35. Epub 2002 Apr 15 doi: 10.1007/s10227-001-0037-6. PMID: 11951125

See all (47)