{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T13:58:14Z","timestamp":1740146294843,"version":"3.37.3"},"reference-count":26,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2017,12,7]],"date-time":"2017-12-07T00:00:00Z","timestamp":1512604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["IG15460"],"award-info":[{"award-number":["IG15460"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"name":"IRCCS AOU San Martino-IST","award":["5 per mille per la Ricerca Corrente"],"award-info":[{"award-number":["5 per mille per la Ricerca Corrente"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0189123","type":"journal-article","created":{"date-parts":[[2017,12,7]],"date-time":"2017-12-07T13:35:26Z","timestamp":1512653726000},"page":"e0189123","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["Functional analysis of a CDKN2A 5\u2019UTR germline variant associated with pancreatic cancer development"],"prefix":"10.1371","volume":"12","author":[{"given":"William","family":"Bruno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Andreotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Bisio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenza","family":"Pastorino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Fornarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Sciallero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Bianchi-Scarr\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Inga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-8173","authenticated-orcid":true,"given":"Paola","family":"Ghiorzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2017,12,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"10778","DOI":"10.3748\/wjg.v20.i31.10778","article-title":"Genetic predisposition to pancreatic cancer","volume":"20","author":"P Ghiorzo","year":"2014","journal-title":"World J Gastroenterol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1053\/j.seminoncol.2016.09.002","article-title":"Familial pancreatic cancer","volume":"43","author":"GM Petersen","year":"2016","journal-title":"Semin Oncol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1038\/nature14169","article-title":"Whole genomes redefine the mutational landscape of pancreatic cancer","volume":"518","author":"N Waddell","year":"2015","journal-title":"Nature"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/(SICI)1097-0215(19991112)83:4<441::AID-IJC2>3.0.CO;2-R","article-title":"Characterization of Ligurian melanoma families and risk of occurrence of other neoplasia","volume":"83","author":"P Ghiorzo","year":"1999","journal-title":"Int J Cancer"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"2682","DOI":"10.1093\/hmg\/ddl199","article-title":"Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma","volume":"15","author":"P Ghiorzo","year":"2006","journal-title":"Hum Mol Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1016\/j.jaad.2009.03.039","article-title":"Clinical genetic testing for familial melanoma in Italy: A cooperative study","volume":"61","author":"W Bruno","year":"2009","journal-title":"J Am Acad Dermatol"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10555-017-9661-5","article-title":"Identification, genetic testing, and management of hereditary melanoma","volume":"36","author":"SA Leachman","year":"2017","journal-title":"Cancer Metastasis Rev"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1093\/annonc\/mdg498","article-title":"INK4\/ARF germline alterations in pancreatic cancer patients","volume":"15","author":"P Ghiorzo","year":"2004","journal-title":"Ann Oncol Off J Eur Soc Med Oncol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1056\/NEJM199510123331504","article-title":"Increased Risk of Pancreatic Cancer in Melanoma-Prone Kindreds with <italic>p16<\/italic> <sup>INK4<\/sup> Mutations","volume":"333","author":"AM Goldstein","year":"1995","journal-title":"N Engl J Med"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/(SICI)1097-0215(19991112)83:4<441::AID-IJC2>3.0.CO;2-R","article-title":"Characterization of ligurian melanoma families and risk of occurrence of other neoplasia","volume":"83","author":"P Ghiorzo","year":"1999","journal-title":"Int J cancer"},{"key":"ref11","first-page":"1","article-title":"Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations","author":"XR Yang","year":"2016","journal-title":"Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.jaad.2015.09.070","article-title":"Familial skin cancer syndromes Increased melanoma risk","volume":"74","author":"KJ Ransohoff","year":"2016","journal-title":"J Am Acad Dermatol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"9818","DOI":"10.1158\/0008-5472.CAN-06-0494","article-title":"High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL","volume":"66","author":"AM Goldstein","year":"2006","journal-title":"Cancer Res"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/jmedgenet-2011-100281","article-title":"CDKN2A is the main susceptibility gene in Italian pancreatic cancer families","author":"P Ghiorzo","year":"2012","journal-title":"Journal of Medical Genetics"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1093\/hmg\/ddq022","article-title":"Functional analysis of CDKN2A\/p16INK4a 5\u2019-UTR variants predisposing to melanoma","volume":"19","author":"A Bisio","year":"2010","journal-title":"Hum Mol Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/pcmr.12444","article-title":"The CDKN2A\/p16INK4a 5\u2019UTR sequence and translational regulation: Impact of novel variants predisposing to melanoma","volume":"29","author":"V Andreotti","year":"2016","journal-title":"Pigment Cell Melanoma Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"39980","DOI":"10.18632\/oncotarget.5387","article-title":"The 5\u2019-untranslated region of p16INK4a melanoma tumor suppressor acts as a cellular IRES, controlling mRNA translation under hypoxia through YBX1 binding","volume":"6","author":"A Bisio","year":"2015","journal-title":"Oncotarget"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/pcmr.12047","article-title":"Prevalence of the E318K MITF germline mutation in Italian melanoma patients: Associations with histological subtypes and family cancer history","volume":"26","author":"P Ghiorzo","year":"2013","journal-title":"Pigment Cell Melanoma Res"},{"key":"ref19","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":"W Bruno","year":"2016","journal-title":"J Am Acad Dermatol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1002\/humu.22550","article-title":"<italic>CDKN2A<\/italic> Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment","volume":"35","author":"MC Scaini","year":"2014","journal-title":"Hum Mutat"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1016\/j.cell.2016.06.056","article-title":"NRF2 Promotes Tumor Maintenance by Modulating mRNA Translation in Pancreatic Cancer","volume":"166","author":"IIC Chio","year":"2016","journal-title":"Cell"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1038\/ng.3861","article-title":"Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma","volume":"49","author":"ME Feigin","year":"2017","journal-title":"Nat Genet"},{"key":"ref23","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":"S Horn","year":"2013","journal-title":"Science"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/nrg.2015.17","article-title":"Role of non-coding sequence variants in cancer","volume":"17","author":"E Khurana","year":"2016","journal-title":"Nat Rev Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.cell.2004.11.022","article-title":"A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans","volume":"119","author":"GL Bond","year":"2004","journal-title":"Cell"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"1317","DOI":"10.1038\/sj.onc.1210199","article-title":"A single nucleotide polymorphism in the p53 pathway interacts with gender, environmental stresses and tumor genetics to influence cancer in humans","volume":"26","author":"GL Bond","year":"2007","journal-title":"Oncogene"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0189123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T17:06:01Z","timestamp":1540227961000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0189123"}},"subtitle":[],"editor":[{"given":"Alvaro","family":"Galli","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2017,12,7]]},"references-count":26,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2017,12,7]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0189123","relation":{},"ISSN":["1932-6203"],"issn-type":[{"type":"electronic","value":"1932-6203"}],"subject":[],"published":{"date-parts":[[2017,12,7]]}}}