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We aimed to identify germline variants in high- and low- to moderate-penetrance melanoma risk genes in Brazilian patients with clinical criteria for familial melanoma syndrome. We selected patients with three or more melanomas or melanoma patients from families with three tumors (melanoma and pancreatic cancer) in first- or second-degree relatives. Genetic testing was performed with a nine-gene panel (ACD, BAP1, CDK4, CDKN2A, POT1, TERT, TERF2IP, MC1R, and MITF). In 36 patients, we identified 2 (5.6%) with germline pathogenic variants in CDKN2A and BAP1 and 4 (11.1%) with variants of uncertain significance in the high-penetrance genes. MC1R variants were found in 86.5%, and both red hair color variants and unknown risk variants were enriched in patients compared to a control group. The low frequency of germline pathogenic variants in the high-penetrance genes and the high prevalence of MC1R variants found in our cohort show the importance of the MC1R genotype in determining the risk of melanoma in the Brazilian melanoma-prone families.<\/jats:p>","DOI":"10.3390\/ijms242115830","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T11:16:27Z","timestamp":1698750987000},"page":"15830","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients"],"prefix":"10.3390","volume":"24","author":[{"given":"Bianca Costa","family":"Soares de S\u00e1","sequence":"first","affiliation":[{"name":"Skin Cancer Department, A.C. Camargo Cancer Center, S\u00e3o Paulo 01529-001, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana Facure","family":"Moredo","sequence":"additional","affiliation":[{"name":"Skin Cancer Department, A.C. Camargo Cancer Center, S\u00e3o Paulo 01529-001, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8659-5329","authenticated-orcid":false,"given":"Giovana Tardin","family":"Torrezan","sequence":"additional","affiliation":[{"name":"Clinical and Functional Genomics Group, International Research Center\/CIPE, A.C. Camargo Cancer Center, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"},{"name":"National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Fidalgo","sequence":"additional","affiliation":[{"name":"Clinical and Functional Genomics Group, International Research Center\/CIPE, A.C. Camargo Cancer Center, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9rica Sara Souza","family":"de Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Clinical and Functional Genomics Group, International Research Center\/CIPE, A.C. Camargo Cancer Center, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Nirvana","family":"Formiga","sequence":"additional","affiliation":[{"name":"Oncogenetics Department, A.C. Camargo Cancer Center, S\u00e3o Paulo 01509-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8968-4506","authenticated-orcid":false,"given":"Jo\u00e3o Pereira","family":"Duprat","sequence":"additional","affiliation":[{"name":"Skin Cancer Department, A.C. Camargo Cancer Center, S\u00e3o Paulo 01529-001, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirce Maria","family":"Carraro","sequence":"additional","affiliation":[{"name":"Clinical and Functional Genomics Group, International Research Center\/CIPE, A.C. Camargo Cancer Center, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"},{"name":"National Institute of Science and Technology in Oncogenomics and Therapeutic Innovation, 440 Tagu\u00e1 St., S\u00e3o Paulo 01508-010, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.det.2008.12.002","article-title":"Melanoma epidemiology and public health","volume":"27","author":"Berwick","year":"2009","journal-title":"Dermatol. Clin."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/j.1365-4632.2010.04381.x","article-title":"Defining the patient at high risk for melanoma","volume":"49","author":"Psaty","year":"2010","journal-title":"Int. J. Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2015-103150","article-title":"Melanoma genetics","volume":"53","author":"Read","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/S1470-2045(04)01469-X","article-title":"Clinical germline genetic testing for melanoma","volume":"5","author":"Hansen","year":"2004","journal-title":"Lancet Oncol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"677.e1","DOI":"10.1016\/j.jaad.2009.03.016","article-title":"Selection criteria for genetic assessment of patients with familial melanoma","volume":"61","author":"Leachman","year":"2009","journal-title":"J. Am. Acad Dermatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/gcc.1183","article-title":"Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect","volume":"32","author":"Auroy","year":"2001","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1111\/pcmr.12333","article-title":"Genetics of familial melanoma: 20 years after CDKN2A","volume":"28","author":"Aoude","year":"2015","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.canlet.2004.12.033","article-title":"Cutaneous melanoma susceptibility and progression genes","volume":"230","author":"Hayward","year":"2005","journal-title":"Cancer Lett."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1136\/jmg.2006.043802","article-title":"Features associated with germline CDKN2A mutations: A GenoMEL study of melanoma-prone families from three continents","volume":"44","author":"Goldstein","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.suc.2008.04.005","article-title":"Familial melanoma","volume":"88","author":"Hansson","year":"2008","journal-title":"Surg. Clin. N. Am."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"10","DOI":"10.5826\/dpc.0901a03","article-title":"Familial Melanoma: Diagnostic and Management Implications","volume":"9","author":"Rossi","year":"2019","journal-title":"Dermatol. Pract. Concept."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1111\/cge.13129","article-title":"A novel germline mutation in CDK4 codon 24 associated to familial melanoma","volume":"93","author":"Bottillo","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"100525","DOI":"10.1016\/j.esmoop.2022.100525","article-title":"Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup","volume":"7","author":"Bruno","year":"2022","journal-title":"ESMO Open"},{"key":"ref_14","first-page":"210","article-title":"Update in genetic susceptibility in melanoma","volume":"3","author":"Potrony","year":"2015","journal-title":"Ann. Transl. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/nature16158","article-title":"Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma","volume":"531","author":"Bertolotto","year":"2016","journal-title":"Nature"},{"key":"ref_16","first-page":"dju408","article-title":"Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma","volume":"107","author":"Aoude","year":"2014","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1126\/science.1230062","article-title":"TERT promoter mutations in familial and sporadic melanoma","volume":"339","author":"Horn","year":"2013","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1038\/ng.2947","article-title":"POT1 loss-of-function variants predispose to familial melanoma","volume":"46","author":"Harland","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/gim.2015.160","article-title":"Characterization of individuals at high risk of developing melanoma in Latin America: Bases for genetic counseling in melanoma","volume":"18","author":"Puig","year":"2016","journal-title":"Genet. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1111\/j.1468-3083.2008.03027.x","article-title":"European ancestry and cutaneous melanoma in Southern Brazil","volume":"23","author":"Bakos","year":"2009","journal-title":"J. Eur. Acad Dermatol. Venereol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e179","DOI":"10.1111\/j.1468-3083.2012.04567.x","article-title":"Genetic variations of patients with familial or multiple melanoma in Southern Brazil","volume":"27","author":"Grazziotin","year":"2013","journal-title":"J. Eur. Acad Dermatol. Venereol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. Clin."},{"key":"ref_23","unstructured":"Minist\u00e9rio da Sa\u00fade (2023, March 12). Instituto Nacional de C\u00e2ncer Jos\u00e9 Alencar Gomes da Silva. Estimativa 2020: Incid\u00eancia de C\u00e2ncer No Brasil. Rio de Janeiro: INCA; 2019. [\u00daltima Modifica\u00e7\u00e3o: 07\/07\/2022], Available online: https:\/\/www.inca.gov.br\/estimativa\/estado-capital\/brasil."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/sj.jid.5701030","article-title":"Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil","volume":"128","author":"Bakos","year":"2008","journal-title":"J. Investig. Dermatol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/s10689-014-9736-1","article-title":"Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma","volume":"13","author":"Krepischi","year":"2014","journal-title":"Fam. Cancer"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1590\/S0100-879X2006000200010","article-title":"The P48T germline mutation and polymorphism in the CDKN2A gene of patients with melanoma","volume":"39","author":"Huber","year":"2006","journal-title":"Braz. J. Med. Biol. Res."},{"key":"ref_27","first-page":"3","article-title":"Low frequency of germline TERT and MITF mutations in Brazilian melanoma prone patients","volume":"3","author":"Pramio","year":"2014","journal-title":"Hered. Genet."},{"key":"ref_28","first-page":"231","article-title":"Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain","volume":"5","author":"Aguilera","year":"2014","journal-title":"J. Clin. Exp. Dermatol. Res."},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"M\u00e1rquez-Rodas, I., Gonz\u00e1lez, M.M., Nagore, E., G\u00f3mez-Fern\u00e1ndez, C., Avil\u00e9s-Izquierdo, J.A., Maldonado-Seral, C., Soriano, V., Majem-Tarruella, M., Palomar, V., and Maseda, R. (2015). Spanish Multidisciplinary Group of Melanoma (GEM). Frequency and characteristics of familial melanoma in Spain: The FAM-GEM-1 Study. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0124239"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/jso.27111","article-title":"Anatomical location of melanoma: A gender-specific analysis","volume":"127","author":"Bainvoll","year":"2023","journal-title":"J. Surg. Oncol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1016\/j.jaad.2015.09.053","article-title":"Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup","volume":"74","author":"Bruno","year":"2016","journal-title":"J. Am. Acad Dermatol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"512","DOI":"10.2340\/00015555-2898","article-title":"Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants","volume":"98","author":"Huerta","year":"2018","journal-title":"Acta Derm. Venereol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1097\/CMR.0000000000000323","article-title":"Characterization of melanoma susceptibility genes in high-risk patients from Central Italy","volume":"27","author":"Pellegrini","year":"2017","journal-title":"Melanoma Res."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"de S\u00e1, B.C.S., de Macedo, M.P., Torrezan, G.T., Braga, J.C.T., Fidalgo, F., Moredo, L.F., Lellis, R., Duprat, J.P., and Carraro, D.M. (2019). BAP1 tumor predisposition syndrome case report: Pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy. BMC Cancer, 19.","DOI":"10.1186\/s12885-019-6226-8"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1136\/jmedgenet-2019-106657","article-title":"POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families","volume":"57","author":"Shen","year":"2020","journal-title":"J. Med. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/bjd.17443","article-title":"POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families","volume":"181","author":"Potrony","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/s10689-017-9984-y","article-title":"A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers","volume":"16","author":"Wilson","year":"2017","journal-title":"Fam. Cancer"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1568","DOI":"10.1093\/jnci\/djq363","article-title":"Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: A GenoMEL study","volume":"102","author":"Demenais","year":"2010","journal-title":"J. Natl. Cancer Inst."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Fidalgo, F., Torrezan, G.T., de S\u00e1, B.C.S., Barros, B.D.d.F., Moredo, L.F., Valieris, R., de Souza, S.J., Duprat, J.P., Krepischi, A.C.V., and Carraro, D.M. (2022). Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0262419"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"842496","DOI":"10.3389\/fonc.2022.842496","article-title":"Melanoma, Melanin, and Melanogenesis: The Yin and Yang Relationship","volume":"12","author":"Slominski","year":"2022","journal-title":"Front Oncol."},{"key":"ref_41","first-page":"e2023146","article-title":"Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey","volume":"13","author":"Elcin","year":"2023","journal-title":"Dermatol. Pract. Concept."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.2147\/CMAR.S155283","article-title":"MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: A pooled analysis from the M-SKIP project","volume":"10","author":"Tagliabue","year":"2018","journal-title":"Cancer Manag. Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1730","DOI":"10.1002\/ijc.25804","article-title":"Melanocortin 1 receptor and risk of cutaneous melanoma: A meta-analysis and estimates of population burden","volume":"129","author":"Williams","year":"2011","journal-title":"Int. J. Cancer"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Swope, V.B., and Abdel-Malek, Z.A. (2018). MC1R: Front and Center in the Bright Side of Dark Eumelanin and DNA Repair. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19092667"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1111\/bjd.17833","article-title":"High naevus count and MC1R red hair alleles contribute synergistically to increased melanoma risk","volume":"181","author":"Duffy","year":"2019","journal-title":"Br. J. Dermatol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1097\/CMR.0b013e32833b159d","article-title":"Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain","volume":"20","author":"Oliver","year":"2010","journal-title":"Melanoma Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Hu, H.-H., Benfodda, M., Dumaz, N., Gazal, S., Descamps, V., Bourillon, A., Basset-Seguin, N., Riffault, A., Ezzedine, K., and Bagot, M. (2014). A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk. Biomed. Res. Int., 2014.","DOI":"10.1155\/2014\/925716"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/humu.23220","article-title":"Exomic variants of an elderly cohort of Brazilians in the ABraOM database","volume":"38","author":"Naslavsky","year":"2017","journal-title":"Hum. Mutat."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/21\/15830\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:15:05Z","timestamp":1760130905000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/21\/15830"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,31]]},"references-count":49,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2023,11]]}},"alternative-id":["ijms242115830"],"URL":"https:\/\/doi.org\/10.3390\/ijms242115830","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,31]]}}}