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Familial melanoma

MedGen UID:
268851
Concept ID:
C1512419
Neoplastic Process
Synonyms: Hereditary cutaneous melanoma; Hereditary melanoma
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Related genes: XRCC3, TERT, STK11, MITF, MC1R, CDKN2A, CDK4, BRAF
 
Monarch Initiative: MONDO:0018961
Orphanet: ORPHA618

Definition

Melanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.

A large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.

Melanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.

Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize). [from MedlinePlus Genetics]

Professional guidelines

PubMed

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
Swetter SM, Tsao H, Bichakjian CK, Curiel-Lewandrowski C, Elder DE, Gershenwald JE, Guild V, Grant-Kels JM, Halpern AC, Johnson TM, Sober AJ, Thompson JA, Wisco OJ, Wyatt S, Hu S, Lamina T
J Am Acad Dermatol 2019 Jan;80(1):208-250. Epub 2018 Nov 1 doi: 10.1016/j.jaad.2018.08.055. PMID: 30392755
DE Simone P, Valiante M, Silipo V
G Ital Dermatol Venereol 2017 Jun;152(3):262-265. Epub 2017 Jan 24 doi: 10.23736/S0392-0488.17.05554-7. PMID: 28121081

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Melanoma: Cutaneous, 2024

UK NICE Guideline NG14, Melanoma: assessment and management, 2022

Suggested Reading

Recent clinical studies

Etiology

Abdo JF, Sharma A, Sharma R
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Lucchina LC, Barnhill RL, Duke DM, Sober AJ
Melanoma Res 1995 Dec;5(6):413-8. doi: 10.1097/00008390-199512000-00004. PMID: 8589615

Diagnosis

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
Visser M, van der Stoep N, Gruis N
Fam Cancer 2019 Apr;18(2):267-271. doi: 10.1007/s10689-018-00115-3. PMID: 30659395
Swetter SM, Tsao H, Bichakjian CK, Curiel-Lewandrowski C, Elder DE, Gershenwald JE, Guild V, Grant-Kels JM, Halpern AC, Johnson TM, Sober AJ, Thompson JA, Wisco OJ, Wyatt S, Hu S, Lamina T
J Am Acad Dermatol 2019 Jan;80(1):208-250. Epub 2018 Nov 1 doi: 10.1016/j.jaad.2018.08.055. PMID: 30392755
Halpern AC, Altman JF
Curr Opin Oncol 1999 Mar;11(2):132-8. doi: 10.1097/00001622-199903000-00010. PMID: 10188079
Lucchina LC, Barnhill RL, Duke DM, Sober AJ
Melanoma Res 1995 Dec;5(6):413-8. doi: 10.1097/00008390-199512000-00004. PMID: 8589615

Therapy

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
Olsen CM, Carroll HJ, Whiteman DC
Cancer Epidemiol Biomarkers Prev 2010 Jan;19(1):65-73. doi: 10.1158/1055-9965.EPI-09-0928. PMID: 20056624
Mumm CD, Draznin M
Dermatol Online J 2006 Sep 8;12(5):13. PMID: 16962028
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Dermatol Clin 2006 Apr;24(2):167-97, vi. doi: 10.1016/j.det.2006.01.001. PMID: 16677965
Fraser MC, Goldstein AM, Tucker MA
Semin Oncol Nurs 1997 May;13(2):108-14. doi: 10.1016/s0749-2081(97)80007-1. PMID: 9114478

Prognosis

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
Visser M, van der Stoep N, Gruis N
Fam Cancer 2019 Apr;18(2):267-271. doi: 10.1007/s10689-018-00115-3. PMID: 30659395
Liggett WH Jr, Sidransky D
J Clin Oncol 1998 Mar;16(3):1197-206. doi: 10.1200/JCO.1998.16.3.1197. PMID: 9508208
Lucchina LC, Barnhill RL, Duke DM, Sober AJ
Melanoma Res 1995 Dec;5(6):413-8. doi: 10.1097/00008390-199512000-00004. PMID: 8589615
Young LH, Egan KM, Walsh SM, Gragoudas ES
Am J Ophthalmol 1994 Apr 15;117(4):516-20. doi: 10.1016/s0002-9394(14)70014-5. PMID: 8154536

Clinical prediction guides

Horn IP, Marks DL, Koenig AN, Hogenson TL, Almada LL, Goldstein LE, Romecin Duran PA, Vera R, Vrabel AM, Cui G, Rabe KG, Bamlet WR, Mer G, Sicotte H, Zhang C, Li H, Petersen GM, Fernandez-Zapico ME
J Biol Chem 2021 Jan-Jun;296:100634. Epub 2021 Apr 3 doi: 10.1016/j.jbc.2021.100634. PMID: 33823155Free PMC Article
Read J, Wadt KA, Hayward NK
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Lu M, Zak J, Chen S, Sanchez-Pulido L, Severson DT, Endicott J, Ponting CP, Schofield CJ, Lu X
Cell 2014 May 22;157(5):1130-45. doi: 10.1016/j.cell.2014.05.006. PMID: 24855949
Liggett WH Jr, Sidransky D
J Clin Oncol 1998 Mar;16(3):1197-206. doi: 10.1200/JCO.1998.16.3.1197. PMID: 9508208
Gruis NA, van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR
Nat Genet 1995 Jul;10(3):351-3. doi: 10.1038/ng0795-351. PMID: 7670475

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
Primiero CA, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM
Dermatology 2021;237(5):806-815. Epub 2021 Feb 15 doi: 10.1159/000513919. PMID: 33588421
Primiero CA, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM
Dermatology 2021;237(5):816-826. Epub 2021 Jan 28 doi: 10.1159/000513576. PMID: 33508831
Kottschade LA, Grotz TE, Dronca RS, Salomao DR, Pulido JS, Wasif N, Jakub JW, Bagaria SP, Kumar R, Kaur JS, Morita SY, Moran SL, Nguyen JT, Nguyen EC, Hand JL, Erickson LA, Brewer JD, Baum CL, Miller RC, Swanson DL, Lowe V, Markovic SN
Am J Clin Oncol 2014 Dec;37(6):635-41. doi: 10.1097/COC.0b013e3182868e82. PMID: 23563206Free PMC Article
Olsen CM, Carroll HJ, Whiteman DC
Cancer Epidemiol Biomarkers Prev 2010 Jan;19(1):65-73. doi: 10.1158/1055-9965.EPI-09-0928. PMID: 20056624

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Melanoma: Cutaneous, 2024
    • NICE, 2022
      UK NICE Guideline NG14, Melanoma: assessment and management, 2022

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