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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

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
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
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
Cutaneous malignant melanoma and Parkinson disease: Common pathways?
Inzelberg R, Flash S, Friedman E, Azizi E
Ann Neurol 2016 Dec;80(6):811-820. Epub 2016 Nov 14 doi: 10.1002/ana.24802. PMID: 27761938
Multiple primary melanoma.
Conrad N, Leis P, Orengo I, Medrano EE, Hayes TG, Baer S, Rosen T
Dermatol Surg 1999 Jul;25(7):576-81. doi: 10.1046/j.1524-4725.1999.98050.x. PMID: 10469118

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
Risk Factors of Subsequent Primary Melanomas in Austria.
Müller C, Wendt J, Rauscher S, Sunder-Plassmann R, Richtig E, Fae I, Fischer G, Okamoto I
JAMA Dermatol 2019 Feb 1;155(2):188-195. doi: 10.1001/jamadermatol.2018.4645. PMID: 30566178Free 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
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

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
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

Prognosis

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
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
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
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

Clinical prediction guides

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: 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
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

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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    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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