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Melanoma, cutaneous malignant, susceptibility to, 7(CMM7)

MedGen UID:
394200
•Concept ID:
C2677089
•
Finding
Synonyms: CMM7; Cutaneous malignant melanoma 7
 
Monarch Initiative: MONDO:0012842
OMIM®: 612263

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 CMM1 (155600). [from OMIM]

Professional guidelines

PubMed

Impact of melanoma genetic test reporting on perceived control over melanoma prevention.
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

The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.
Pellegrini S, Elefanti L, Dall'Olmo L, Menin C
Genes (Basel) 2021 Jul 16;12(7) doi: 10.3390/genes12071077. PMID: 34356093Free PMC Article
Association of XPC Polymorphisms with Cutaneous Malignant Melanoma Risk: Evidence from a Meta-Analysis.
Asadian F, Niktabar SM, Ghelmani Y, Kargar S, Akbarian E, Emarati SA, Sadeghizadeh-Yazdi J, Neamatzadeh H
Acta Medica (Hradec Kralove) 2020;63(3):101-112. doi: 10.14712/18059694.2020.27. PMID: 33002396
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
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT
Hum Mol Genet 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. PMID: 30060076Free 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

Diagnosis

Expression Differences in BCL2 Family Members between Uveal and Cutaneous Melanomas Account for Varying Sensitivity to BH3 Mimetics.
Mukherjee N, Dart CR, Amato CM, Honig-Frand A, Lambert JR, Lambert KA, Robinson WA, Tobin RP, McCarter MD, Couts KL, Fujita M, Norris DA, Shellman YG
J Invest Dermatol 2022 Jul;142(7):1912-1922.e7. Epub 2021 Dec 20 doi: 10.1016/j.jid.2021.11.035. PMID: 34942200Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free 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
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
Phenocopies in melanoma-prone families with germ-line CDKN2A mutations.
Helgadottir H, Olsson H, Tucker MA, Yang XR, Höiom V, Goldstein AM
Genet Med 2018 Sep;20(9):1087-1090. Epub 2017 Dec 7 doi: 10.1038/gim.2017.216. PMID: 29215650Free PMC Article

Therapy

Expression Differences in BCL2 Family Members between Uveal and Cutaneous Melanomas Account for Varying Sensitivity to BH3 Mimetics.
Mukherjee N, Dart CR, Amato CM, Honig-Frand A, Lambert JR, Lambert KA, Robinson WA, Tobin RP, McCarter MD, Couts KL, Fujita M, Norris DA, Shellman YG
J Invest Dermatol 2022 Jul;142(7):1912-1922.e7. Epub 2021 Dec 20 doi: 10.1016/j.jid.2021.11.035. PMID: 34942200Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free 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
The protective effect of coffee consumption on cutaneous melanoma risk and the role of GSTM1 and GSTT1 polymorphisms.
Fortes C, Mastroeni S, Boffetta P, Antonelli G, Pilla MA, Bottà G, Anzidei P, Venanzetti F
Cancer Causes Control 2013 Oct;24(10):1779-87. Epub 2013 Jul 17 doi: 10.1007/s10552-013-0255-4. PMID: 23860951
Host risk factors, ultraviolet index of residence, and incident malignant melanoma in situ among US women and men.
Walls AC, Han J, Li T, Qureshi AA
Am J Epidemiol 2013 May 1;177(9):997-1005. Epub 2013 Apr 11 doi: 10.1093/aje/kws335. PMID: 23579556Free PMC Article

Prognosis

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F, Torrezan GT, Sá BCS, Barros BDF, Moredo LF, Valieris R, de Souza SJ, Duprat JP, Krepischi ACV, Carraro DM
PLoS One 2022;17(1):e0262419. Epub 2022 Jan 27 doi: 10.1371/journal.pone.0262419. PMID: 35085295Free PMC Article
Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival.
Chen K, Liu H, Liu Z, Bloomer W, Amos CI, Lee JE, Li X, Nan H, Wei Q
Mol Carcinog 2019 Nov;58(11):2091-2103. Epub 2019 Aug 22 doi: 10.1002/mc.23100. PMID: 31435991Free PMC Article
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT
Hum Mol Genet 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. PMID: 30060076Free 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
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

Clinical prediction guides

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.
Fidalgo F, Torrezan GT, Sá BCS, Barros BDF, Moredo LF, Valieris R, de Souza SJ, Duprat JP, Krepischi ACV, Carraro DM
PLoS One 2022;17(1):e0262419. Epub 2022 Jan 27 doi: 10.1371/journal.pone.0262419. PMID: 35085295Free PMC Article
The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma.
Pellegrini S, Elefanti L, Dall'Olmo L, Menin C
Genes (Basel) 2021 Jul 16;12(7) doi: 10.3390/genes12071077. PMID: 34356093Free PMC Article
Multiple Sclerosis Treatment and Melanoma Development.
Carbone ML, Lacal PM, Messinese S, De Giglio L, Pozzilli C, Persechino S, Mazzanti C, Failla CM, Pagnanelli G
Int J Mol Sci 2020 Apr 22;21(8) doi: 10.3390/ijms21082950. PMID: 32331328Free PMC Article
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.
Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J, Consortium MM, Consortium M, Landi MT
Hum Mol Genet 2018 Dec 1;27(23):4145-4156. doi: 10.1093/hmg/ddy282. PMID: 30060076Free 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

Recent systematic reviews

Association of XPG rs17655G>C and XPF rs1799801T>C Polymorphisms with Susceptibility to Cutaneous Malignant Melanoma: Evidence from a Case-Control Study, Systematic Review and Meta-Analysis.
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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