MelaNostrum Consortium Publications

Selected Publications

Stefanaki I, D'Ecclesiis O, Vignati S, et al. Association of MC1R variants with melanoma risk and interaction with sun exposure: An M-SKIP project. J Eur Acad Dermatol Venereol. Published online October 19, 2024. doi:10.1111/jdv.20380
Millan-Esteban D, García-Casado Z, Macià A, et al. Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status. Dermatology. 2024;240(1):164-169. doi:10.1159/000534955
Pellegrini C, Cardelli L, Ghiorzo P, et al. High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium. J Eur Acad Dermatol Venereol. 2023;37(12):2498-2508. doi:10.1111/jdv.19461
Goldstein AM, Qin R, Chu EY, et al. Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series. JAAD Int. 2023;11:43-51. Published 2023 Jan 30. doi:10.1016/j.jdin.2023.01.013
Astiazaran-Symonds E, Graham C, Kim J, et al. Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer. JCO Precis Oncol. 2022;6:e2200145. doi:10.1200/PO.22.00145
Vicente ALSA, Novoloaca A, Cahais V, et al. Cutaneous and acral melanoma cross-OMICs reveals prognostic cancer drivers associated with pathobiology and ultraviolet exposure. Nat Commun. 2022;13(1):4115. Published 2022 Jul 15. doi:10.1038/s41467-022-31488-w
Brown KM, Xu M, Sargen M, et al. Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family. Fam Cancer. 2022;21(3):347-355. doi:10.1007/s10689-021-00267-9
Zaballos P, Álvarez Salafranca M, Medina C, et al. The Usefulness of Dermoscopy for the Recognition of Malignant Collision Tumors. Dermatology. 2022;238(1):132-139. doi:10.1159/000514583
Dalmasso B, Pastorino L, Nathan V, et al. Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia. Genet Med. 2021;23(11):2087-2095. doi:10.1038/s41436-021-01240-8
Stefanaki I, Stratigos AJ, Kypreou KP, et al. MC1R variants in relation to naevi in melanoma cases and controls: A pooled analysis from the M-SKIP project. J Eur Acad Dermatol Venereol. 2021;35(2):e135-e138. doi:10.1111/jdv.16869
Marczynski GT, Laus AC, Dos Reis MB, Reis RM, Vazquez VL. Circulating tumor DNA (ctDNA) detection is associated with shorter progression-free survival in advanced melanoma patients. Sci Rep. 2020;10(1):18682. Published 2020 Oct 29. doi:10.1038/s41598-020-75792-1
Tovar-Parra JD, Gutiérrez-Castañeda LD, Gil-Quiñones SR, Nova JA, Pulido L. CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study. Biomed Res Int. 2020;2020:7458917. Published 2020 Oct 10. doi:10.1155/2020/7458917
Gutiérrez-Castañeda LD, Gamboa M, Nova JA, Pulido L, Tovar-Parra JD. Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population. Biomed Res Int. 2020;2020:2046947. Published 2020 Jul 22. doi:10.1155/2020/2046947
Zhang YD, Hurson AN, Zhang H, et al. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers. Nat Commun. 2020;11(1):3353. Published 2020 Jul 3. doi:10.1038/s41467-020-16483-3
Dube U, Ibanez L, Budde JP, et al. Overlapping genetic architecture between Parkinson disease and melanoma [published correction appears in Acta Neuropathol. 2020 May;139(5):963. doi: 10.1007/s00401-020-02143-9.]. Acta Neuropathol. 2020;139(2):347-364. doi:10.1007/s00401-019-02110-z
Nova JA, Sánchez-Vanegas G, Gamboa M, Gil-Quiñones SR. Melanoma risk factors in a Latin American population. An Bras Dermatol. 2020;95(4):531-533. doi:10.1016/j.abd.2019.11.009
Gutiérrez-Castañeda LD, Nova JA, Tovar-Parra JD. Frequency of mutations in BRAF, NRAS, and KIT in different populations and histological subtypes of melanoma: a systemic review. Melanoma Res. 2020;30(1):62-70. doi:10.1097/CMR.0000000000000628
Landi MT, Bishop DT, MacGregor S, et al. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nat Genet. 2020;52(5):494-504. doi:10.1038/s41588-020-0611-8
Sargen MR, Calista D, Elder DE, et al. Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain. J Am Acad Dermatol. 2020;83(3):860-869. doi:10.1016/j.jaad.2020.03.100
Caini S, Gandini S, Botta F, et al. MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: A pooled analysis from the M-SKIP project. Melanoma Res. 2020;30(5):500-510. doi:10.1097/CMR.0000000000000668
da Costa LMM, Crovador CS, de Carvalho CEB, Vazquez VL. Characteristics of Brazilian melanomas: real-world results before and after the introduction of new therapies. BMC Res Notes. 2019;12(1):296. Published 2019 May 28. doi:10.1186/s13104-019-4336-7
Pellegrini C, Botta F, Massi D, et al. MC1R variants in childhood and adolescent melanoma: A retrospective pooled analysis of a multicentre cohort. Lancet Child Adolesc Health. 2019;3(5):332-342. doi:10.1016/S2352-4642(19)30005-7
Potrony M, Puig-Butille JA, et al. POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families. Br J Dermatol. 2019;181(1):105-113. doi:10.1111/bjd.17443
Schlafly A, Pfeiffer RM, Nagore E, et al. Contribution of Common Genetic Variants to Familial Aggregation of Disease and Implications for Sequencing Studies. PLoS Genet. 2019;15(11):e1008490. Published 2019 Nov 15. doi:10.1371/journal.pgen.1008490
Taylor NJ, Mitra N, Qian L, et al. Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT. J Am Acad Dermatol. 2019;81(2):386-394. doi:10.1016/j.jaad.2019.01.079
Vicente ALSA, Crovador CS, Macedo G, Scapulatempo-Neto C, Reis RM, Vazquez VL. Mutational Profile of Driver Genes in Brazilian Melanomas. J Glob Oncol. 2019;5:1-14. doi:10.1200/JGO.19.00169
Gu F, Chen TH, Pfeiffer RM, et al. Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma. Hum Mol Genet. 2018;27(23):4145-4156. doi:10.1093/hmg/ddy282
Kim J, Luo W, Wang M, et al. Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls. Genome Med. 2018;10(1):99. Published 2018 Dec 24. doi:10.1186/s13073-018-0607-5
Stratigos AJ, Fargnoli MC, De Nicolo A, et al. MelaNostrum: a consensus questionnaire of standardized epidemiologic and clinical variables for melanoma risk assessment by the melanostrum consortium. J Eur Acad Dermatol Venereol. 2018;32(12):2134-2141. doi:10.1111/jdv.15208
Tagliabue E, Gandini S, Bellocco R, et al. MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: A pooled analysis from the M-SKIP project. Cancer Manag Res. 2018;10:1143-1154. Published 2018 May 14. doi:10.2147/CMAR.S155283
Pellegrini C, Maturo MG, Martorelli C, et al. Characterization of melanoma susceptibility genes in high-risk patients from Central Italy. Melanoma Res. 2017;27(3):258-267. doi:10.1097/CMR.0000000000000323
Espinosa P, Pfeiffer RM, García-Casado Z, et al. Risk factors for keratinocyte skin cancer in patients diagnosed with melanoma, a large retrospective study. Eur J Cancer. 2016;53:115-124. doi:10.1016/j.ejca.2015.10.058
Nagore E, Heidenreich B, Rachakonda S, et al. TERT promoter mutations in melanoma survival. Int J Cancer. 2016;139(1):75-84. doi:10.1002/ijc.30042
Pasquali E, García-Borrón JC, Fargnoli MC, et al. MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-analysis from the M-SKIP project. Int J Cancer. 2015;136(3):618-631. doi:10.1002/ijc.29018
Fargnoli MC, Sera F, Suppa M, et al. Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype. J Eur Acad Dermatol Venereol. 2014;28(12):1768-1775. doi:10.1111/jdv.12411
Liang X, Pfeiffer RM, Li WQ, et al. Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families. J Invest Dermatol. 2014;134(2):481-487. doi:10.1038/jid.2013.316.
Pergoli L, Favero C, Pfeiffer RM, et al. Blood DNA methylation, nevi number, and the risk of melanoma. Melanoma Res. 2014;24(5):480-487. doi:10.1097/CMR.0000000000000112
Shi J, Yang XR, Ballew B, et al. Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. Nat Genet. 2014;46(5):482-486. doi:10.1038/ng.2941
Iles MM, Law MH, Stacey SN, et al. A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet. 2013;45(4):428-432. doi:10.1038/ng.2571.
Bodelon C, Pfeiffer RM, Bollati V, et al. On the interplay of telomeres, nevi and the risk of melanoma. PLoS One. 2012;7(12):e52466. doi:10.1371/journal.pone.0052466.
Fargnoli MC, Pike K, Pfeiffer RM, et al. MC1R variants increase risk of melanomas harboring BRAF mutations. J Invest Dermatol. 2008;128(10):2485-2490. doi:10.1038/jid.2008.67.
Kerstann KF, Bradford PT, Steighner R, et al. No evidence for linkage with melanoma in Italian melanoma-prone families. Cancer Epidemiol Biomarkers Prev. 2008;17(7):1838-1840. doi:10.1158/1055-9965.EPI-08-0264.
Savage SA, Gerstenblith MR, Goldstein AM, et al. Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R. BMC Genet. 2008;9:31. doi:10.1186/1471-2156-9-31.
Gerstenblith MR, Goldstein AM, Fargnoli MC, et al. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat. 2007;28(5):495-505. doi:10.1002/humu.20476.

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Publications (NCBI Collection)