{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T12:44:14Z","timestamp":1789217054911,"version":"build-2803163510"},"reference-count":53,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T00:00:00Z","timestamp":1178755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in the <jats:italic>CDKN2A<\/jats:italic> gene have been shown to predispose individuals to cutaneous malignant melanoma. Here, we describe three melanoma\u2010prone families and one isolated patient affected by multiple melanoma who carried a tandem germline mutation of <jats:italic>CDKN2A<\/jats:italic> at the nucleotide level, [c.339G&gt;C;c.340C&gt;T], [p.Leu113Leu;p.Pro114Ser]. We also describe three other melanoma\u2010prone families that carried a missense germline <jats:italic>CDKN2A<\/jats:italic> mutation, c.167G&gt;T, p.Ser56Ile. All these families and patients resided in southeast France. We analyzed six 9p21 markers where the <jats:italic>CDKN2A<\/jats:italic> gene is located and found that carrier haplotypes for both mutations were consistent with two respective common founder ancestors. In one family, we identified two fourth\u2010degree relatives homozygous for the Ser56Ile mutation, indicating a possible consanguinity. Furthermore, we observed that a carrier of the founder <jats:italic>CDKN2A<\/jats:italic> [p.Leu113Leu;p.Pro114Ser] mutation as well as two <jats:italic>MC1R<\/jats:italic> moderate\u2010risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. This observation suggests that there is a need for reconsideration of the hypothesis that levodopa may play a role in melanoma development, at least when in the context of a high\u2010risk genetic background. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20461","type":"journal-article","created":{"date-parts":[[2007,5,10]],"date-time":"2007-05-10T19:48:35Z","timestamp":1178826515000},"page":"751-760","source":"Crossref","is-referenced-by-count":13,"title":["New founder germline mutations of <i>CDKN2A<\/i> in melanoma\u2010prone families and multiple primary melanoma development in a patient receiving levodopa treatment"],"prefix":"10.1002","volume":"46","author":[{"given":"Caroline","family":"Kannengiesser","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Dalle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Th\u00e9r\u00e8se","family":"Leccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Fran\u00e7oise","family":"Avril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Bonadona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Chompret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Lasset","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Leroux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Lesueur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Lenoir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Sarasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bressac\u2010de Paillerets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201389"},{"key":"e_1_2_6_3_1","first-page":"603","volume":"14","author":"Arap W","year":"1997","journal-title":"Point mutations can inactivate in vitro and in vivo activities of p16INK4a\/CDKN2A in human glioma. 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