{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:43:37Z","timestamp":1761864217554,"version":"build-2065373602"},"reference-count":43,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cutaneous malignant melanoma (CMM) is one of the most common skin cancers worldwide. CMM pathogenesis involves genetic and environmental factors. Recent studies have led to the identification of new genes involved in CMM susceptibility: beyond CDKN2A and CDK4, BAP1, POT1, and MITF were recently identified as potential high-risk melanoma susceptibility genes. This study is aimed to evaluate the genetic predisposition to CMM in patients from central Italy. From 1998 to 2017, genetic testing was performed in 888 cases with multiple primary melanoma and\/or familial melanoma. Genetic analyses included the sequencing CDKN2A, CDK4, BAP1, POT1, and MITF in 202 cases, and of only CDKN2A and CDK4 codon 24 in 686 patients. By the evaluation of the personal and familial history, patients were divided in two clinical categories: \u201clow significance\u201d and \u201chigh significance\u201d cases. 128 patients (72% belonging to the \u201chigh significance\u201d category, 28% belonging to the \u201clow significance\u201d category) were found to carry a DNA change defined as pathogenic, likely pathogenic, variant of unknown significance (VUS)-favoring pathogenic or VUS. It is important to verify the genetic predisposition in CMM patients for an early diagnosis of further melanomas and\/or other tumors associated with the characterized genotype.<\/jats:p>","DOI":"10.3390\/ijms21249432","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T23:39:36Z","timestamp":1607902776000},"page":"9432","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes"],"prefix":"10.3390","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3837-7965","authenticated-orcid":false,"given":"Paola","family":"De Simone","sequence":"first","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0396-7981","authenticated-orcid":false,"given":"Irene","family":"Bottillo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Valiante","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3442-3744","authenticated-orcid":false,"given":"Alessandra","family":"Iorio","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelilia","family":"De Bernardo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Majore","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"D\u2019Angelantonio","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiziana","family":"Valentini","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Sperduti","sequence":"additional","affiliation":[{"name":"Biostatistical Unit, Regina Elena National Cancer Institute IRCCS, 00100 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Piemonte","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2131-5875","authenticated-orcid":false,"given":"Laura","family":"Eibenschutz","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6358-4347","authenticated-orcid":false,"given":"Anna","family":"Carbone","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierluigi","family":"Buccini","sequence":"additional","affiliation":[{"name":"Oncologic Dermatology, San Gallicano Dermatological Institute IRCCS, 00144 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Paiardini","sequence":"additional","affiliation":[{"name":"Department of Biochemical Sciences \u201cA. 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