{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T17:22:48Z","timestamp":1794072168817,"version":"4.8.0"},"reference-count":0,"publisher":"Mattioli1885","license":[{"start":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T00:00:00Z","timestamp":1706659200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatol Pract Concept"],"abstract":"<jats:p>Introduction: Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants (PVs) in DNA repair genes, predominantly the XPC gene.\nObjectives: Report a unique phenotypic expression of mutant XPC allele that may be compatible with a putative modifier role for MC1R polymorphism.\nMethods: A family of 13 siblings, seven of whom were diagnosed with at least one cutaneous\u00a0 melanoma (N = 53) and non-melanoma skin cancers (N = 9) was studied. Of seven melanoma-affected cases, five consented for genetic analysis. CDKN2A revealed no PV in any case and subsequent whole-exome sequencing (WES) identified a rare homozygous missense PV (c.919C&gt;T; p.Arg307Trp) in exon 8 of the XPC gene in all affected individuals. Notably, XPC PV carriers who co-harbored the p.I155T MC1R variant (N = 3) exhibited larger number of tumors, deeper Breslow indexes, higher rates of invasive melanomas and earlier age at diagnosis compared with non MC1R variant carriers (N = 2).\nConclusions: Familial malignant melanoma phenotype may, in fact, be an unusual clinical presentation of XPC, and MC1R may be a genetic modifier of penetrance and phenotype of mutant XPC alleles.<\/jats:p>","DOI":"10.5826\/dpc.1401a50","type":"journal-article","created":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T18:00:47Z","timestamp":1706724047000},"page":"e2024050","source":"Crossref","is-referenced-by-count":1,"title":["Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier"],"prefix":"10.5826","author":[{"given":"Franciele Antonieta Bianchi","family":"Leidenz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia Vasques","family":"Bittencourt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Williana Garcia","family":"Braga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellio Magno de S\u00e1","family":"Araujo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Cavalieri","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa de Fatima","family":"Bernardes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eitan","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz","family":"De Marco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27750","published-online":{"date-parts":[[2024,1,31]]},"container-title":["Dermatology Practical &amp; Conceptual"],"original-title":[],"link":[{"URL":"https:\/\/dpcj.org\/index.php\/dpc\/article\/download\/3558\/2425","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/dpcj.org\/index.php\/dpc\/article\/download\/3558\/2425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T18:00:47Z","timestamp":1706724047000},"score":1,"resource":{"primary":{"URL":"https:\/\/dpcj.org\/index.php\/dpc\/article\/view\/3558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,31]]},"references-count":0,"URL":"https:\/\/doi.org\/10.5826\/dpc.1401a50","relation":{},"ISSN":["2160-9381"],"issn-type":[{"value":"2160-9381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,31]]}}}