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Melanoma, cutaneous malignant, susceptibility to, 6(CMM6)

MedGen UID:
462767
•Concept ID:
C3151417
•
Finding
Synonym: Cutaneous malignant melanoma 6
 
Gene (location): XRCC3 (14q32.33)
 
Monarch Initiative: MONDO:0013510
OMIM®: 613972

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, see 155600. [from OMIM]

Professional guidelines

PubMed

Genetic testing for melanoma predisposition: current challenges.
Gerstenblith MR, Goldstein AM, Tucker MA, Fraser MC
Cancer Nurs 2007 Nov-Dec;30(6):452-9; quiz 462-3. doi: 10.1097/01.NCC.0000300165.98391.e7. PMID: 18025917

Recent clinical studies

Etiology

Comprehensive prediction of immune microenvironment and hot and cold tumor differentiation in cutaneous melanoma based on necroptosis-related lncRNA.
Zhang M, Yang L, Wang Y, Zuo Y, Chen D, Guo X
Sci Rep 2023 May 5;13(1):7299. doi: 10.1038/s41598-023-34238-0. PMID: 37147395Free 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
Non-genetic risk factors for cutaneous melanoma and keratinocyte skin cancers: An umbrella review of meta-analyses.
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
Ocular melanoma: an overview of the current status.
Jovanovic P, Mihajlovic M, Djordjevic-Jocic J, Vlajkovic S, Cekic S, Stefanovic V
Int J Clin Exp Pathol 2013;6(7):1230-44. Epub 2013 Jun 15 PMID: 23826405Free 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

Diagnosis

Comprehensive prediction of immune microenvironment and hot and cold tumor differentiation in cutaneous melanoma based on necroptosis-related lncRNA.
Zhang M, Yang L, Wang Y, Zuo Y, Chen D, Guo X
Sci Rep 2023 May 5;13(1):7299. doi: 10.1038/s41598-023-34238-0. PMID: 37147395Free PMC Article
Targeted Genomic Profiling of Acral Melanoma.
Yeh I, Jorgenson E, Shen L, Xu M, North JP, Shain AH, Reuss D, Wu H, Robinson WA, Olshen A, von Deimling A, Kwok PY, Bastian BC, Asgari MM
J Natl Cancer Inst 2019 Oct 1;111(10):1068-1077. doi: 10.1093/jnci/djz005. PMID: 30657954Free PMC Article
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: 30207590Free PMC Article
Non-genetic risk factors for cutaneous melanoma and keratinocyte skin cancers: An umbrella review of meta-analyses.
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
Ocular melanoma: an overview of the current status.
Jovanovic P, Mihajlovic M, Djordjevic-Jocic J, Vlajkovic S, Cekic S, Stefanovic V
Int J Clin Exp Pathol 2013;6(7):1230-44. Epub 2013 Jun 15 PMID: 23826405Free PMC Article

Therapy

Advanced Acral Melanoma Therapies: Current Status and Future Directions.
Zhang Y, Lan S, Wu D
Curr Treat Options Oncol 2022 Oct;23(10):1405-1427. Epub 2022 Sep 20 doi: 10.1007/s11864-022-01007-6. PMID: 36125617Free PMC Article
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: 30207590Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
Non-genetic risk factors for cutaneous melanoma and keratinocyte skin cancers: An umbrella review of meta-analyses.
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
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

Prognosis

Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.
Casula M, Paliogiannis P, Ayala F, De Giorgi V, Stanganelli I, Mandalà M, Colombino M, Manca A, Sini MC, Caracò C, Ascierto PA, Satta RR; Melanoma Unit of Sassari (MUS), Lissia A, Cossu A, Palmieri G; Italian Melanoma Intergroup (IMI)
BMC Cancer 2019 Aug 5;19(1):772. doi: 10.1186/s12885-019-5984-7. PMID: 31382929Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
Non-genetic risk factors for cutaneous melanoma and keratinocyte skin cancers: An umbrella review of meta-analyses.
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
Ocular melanoma: an overview of the current status.
Jovanovic P, Mihajlovic M, Djordjevic-Jocic J, Vlajkovic S, Cekic S, Stefanovic V
Int J Clin Exp Pathol 2013;6(7):1230-44. Epub 2013 Jun 15 PMID: 23826405Free PMC Article
Uveal melanoma in young patients.
Singh AD, Shields CL, Shields JA, Sato T
Arch Ophthalmol 2000 Jul;118(7):918-23. PMID: 10900104

Clinical prediction guides

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: 30207590Free PMC Article
Global burden of cutaneous melanoma attributable to ultraviolet radiation in 2012.
Arnold M, de Vries E, Whiteman DC, Jemal A, Bray F, Parkin DM, Soerjomataram I
Int J Cancer 2018 Sep 15;143(6):1305-1314. Epub 2018 May 7 doi: 10.1002/ijc.31527. PMID: 29659012
Non-genetic risk factors for cutaneous melanoma and keratinocyte skin cancers: An umbrella review of meta-analyses.
Belbasis L, Stefanaki I, Stratigos AJ, Evangelou E
J Dermatol Sci 2016 Dec;84(3):330-339. Epub 2016 Sep 13 doi: 10.1016/j.jdermsci.2016.09.003. PMID: 27663092
CDKN2A and CDK4 variants in Latvian melanoma patients: analysis of a clinic-based population.
Pjanova D, Engele L, Randerson-Moor JA, Harland M, Bishop DT, Newton Bishop JA, Taylor C, Debniak T, Lubinski J, Kleina R, Heisele O
Melanoma Res 2007 Jun;17(3):185-91. doi: 10.1097/CMR.0b013e328014a2cd. PMID: 17505264
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

Recent systematic reviews

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

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    • ClinVar
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      Clinical tests in GTR
    • OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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