{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T17:00:30Z","timestamp":1765040430319},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Mutations in the cyclin\u2010dependent kinase inhibitor\u20102A (<jats:italic>CDKN2A<\/jats:italic>) gene have been associated with a number of malignancies, most notably cutaneous malignant melanoma (CMM). Mutations in this gene have also been associated with pancreatic cancer and breast cancer, as well as astrocytomas and other nervous system tumors (NST). Among NST, rare solitary internal neurofibromas have been reported, but multiple cutaneous neurofibromas have only been described in two families. In the first family, the affected individuals all carried a heterozygous G\u2009&gt;\u2009C mutation at the splice acceptor site of intron 1 resulting in skipping of <jats:italic>CDKN2A<\/jats:italic> exon 2, while the affected individuals in the second family had a deletion that encompassed the whole <jats:italic>CDKN2A<\/jats:italic>\/<jats:italic>CDKN2B<\/jats:italic>\/<jats:italic>ANRIL<\/jats:italic> locus. We now report on a proposita presenting with multiple biopsy\u2010proven cutaneous neurofibromas and a solitary spinal neurofibroma found to have a deletion of 14 nucleotides in exon 2 of <jats:italic>CDKN2A<\/jats:italic>, providing further evidence that p14, p16, and\/or <jats:italic>ANRIL<\/jats:italic> are specifically involved in the pathogenesis of neurofibromas as a feature of the familial atypical multiple malignant melanoma spectrum. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35884","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T20:18:09Z","timestamp":1366748289000},"page":"1425-1431","source":"Crossref","is-referenced-by-count":11,"title":["Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Rachel","family":"Vanneste","sequence":"first","affiliation":[{"name":"Department of Medical Genetics McGill University Health Centre Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Canada"},{"name":"Department of Pediatrics University of Ottawa Ottawa Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(19951101)76:9<1571::AID-CNCR2820760912>3.0.CO;2-6"},{"key":"e_1_2_4_3_1","first-page":"2298","article-title":"Germ\u2010line deletion involving the INK4 locus in familial proneness to melanoma and nervous system tumors","volume":"58","author":"Bahuau M","year":"1998","journal-title":"Cancer Res"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.601"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.240"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.411"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/92.15.1260"},{"key":"e_1_2_4_8_1","first-page":"115","article-title":"CDKN2 mutations in melanoma","volume":"26","author":"Dracopoli NC","year":"1996","journal-title":"Cancer Surv"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.16.8541"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331504"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/371257a0"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206445"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.72"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1273"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-15"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8153634"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80452-3"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.9.1728"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/375506a0"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033498"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/375503a0"},{"key":"e_1_2_4_22_1","first-page":"2995","article-title":"A novel p16INK4A transcript","volume":"55","author":"Mao L","year":"1995","journal-title":"Cancer Res"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1142447"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20238"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/368753a0"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-06-2004"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djr416"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.1159"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450119"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81400-2"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e102"},{"key":"e_1_2_4_32_1","first-page":"635","article-title":"Cloning and characterization of murine p16INK4a and p15INK4b genes","volume":"11","author":"Quelle DE","year":"1995","journal-title":"Oncogene"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.1.55"},{"key":"e_1_2_4_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204728"},{"key":"e_1_2_4_35_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1142382"},{"key":"e_1_2_4_36_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.10.1149"},{"key":"e_1_2_4_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.407"},{"key":"e_1_2_4_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.412"},{"key":"e_1_2_4_39_1","first-page":"2988","article-title":"Complex structure and regulation of the P16 (MTS1) locus","volume":"55","author":"Stone S","year":"1995","journal-title":"Cancer Res"},{"key":"e_1_2_4_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.586"},{"key":"e_1_2_4_41_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510123331505"},{"key":"e_1_2_4_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.563"},{"key":"e_1_2_4_43_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1142364"},{"key":"e_1_2_4_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81401-4"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35884","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35884","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:43:00Z","timestamp":1698676980000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35884"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,23]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ajmg.a.35884"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35884","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,23]]}}}