{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T18:03:32Z","timestamp":1790273012932,"version":"4.1.0"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2019,9,7]],"date-time":"2019-09-07T00:00:00Z","timestamp":1567814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["19255"],"award-info":[{"award-number":["19255"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["20757"],"award-info":[{"award-number":["20757"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2011-02348722"],"award-info":[{"award-number":["GR-2011-02348722"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Regione Campania \u2018SATIN\u2019"},{"DOI":"10.13039\/100009058","name":"Fondazione Italiana per la Lotta al Neuroblastoma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009058","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Associazione Oncologia Pediatrica e Neuroblastoma"},{"DOI":"10.13039\/501100004710","name":"Fondazione Umberto Veronesi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004710","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007388","name":"UniNA and Compagnia di San Paolo","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,5,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Neuroblastoma (NB) and malignant cutaneous melanoma (CMM) are neural crest cells (NCC)-derived tumors and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association studies (GWAS). We took a three-staged approach to conduct cross-disease meta-analysis of GWAS for NB and CMM (2101 NB cases and 4202 controls; 12 874 CMM cases and 23 203 controls) to identify shared loci. Findings were replicated in 1403 NB cases and 1403 controls of European ancestry and in 636 NB, 508 CMM cases and 2066 controls of Italian origin. We found a cross-association at locus 1p13.2 (rs2153977, odds ratio = 0.91, P = 5.36 \u00d7 10\u22128). We also detected a suggestive (P &amp;lt; 10\u22127) NB-CMM cross-association at 2q37.1 with opposite effect on cancer risk. Pathway analysis of 110 NB-CMM risk loci with P &amp;lt; 10\u22124 demonstrated enrichment of biological processes such as cell migration, cell cycle, metabolism and immune response, which are essential of human NCC development, underlying both tumors. In vitro and in silico analyses indicated that the rs2153977-T protective allele, located in an NB and CMM enhancer, decreased expression of SLC16A1 via long-range loop formation and altered a T-box protein binding site. Upon depletion of SLC16A1, we observed a decrease of cellular proliferation and invasion in both NB and CMM cell lines, suggesting its role as oncogene. This is the largest study to date examining pleiotropy across two NC cell-derived tumors identifying 1p13.2 as common susceptibility locus for NB and CMM risk.<\/jats:p>\n               <jats:p>We demonstrate that combining genome-wide association studies results across cancers with same origins can identify new loci common to neuroblastoma and melanoma arising from tissues which originate from neural crest cells. Our results also show 1p13.2 confer risk to neuroblastoma and melanoma by regulating SLC16A1.<\/jats:p>","DOI":"10.1093\/carcin\/bgz153","type":"journal-article","created":{"date-parts":[[2019,9,5]],"date-time":"2019-09-05T11:41:13Z","timestamp":1567683673000},"page":"284-295","source":"Crossref","is-referenced-by-count":28,"title":["Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene"],"prefix":"10.1093","volume":"41","author":[{"given":"Marianna","family":"Avitabile","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Succoio","sequence":"first","affiliation":[{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Testori","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Cardinale","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5121-8657","authenticated-orcid":false,"given":"Zalman","family":"Vaksman","sequence":"first","affiliation":[{"name":"Division of Oncology and Center for Childhood Cancer Research, The Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"},{"name":"Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vito Alessandro","family":"Lasorsa","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sueva","family":"Cantalupo","sequence":"first","affiliation":[{"name":"IRCCS SDN, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Esposito","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Cimmino","sequence":"first","affiliation":[{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Montella","sequence":"first","affiliation":[{"name":"CEINGE Biotecnologie Avanzate, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Formicola","sequence":"first","affiliation":[{"name":"IRCCS SDN, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Koster","sequence":"first","affiliation":[{"name":"Department of Oncogenomics, Academic Medical Center, University of Amsterdam, Meibergdreef, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Andreotti","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Oncologica Integrata, Universit\u00e0 degli Studi di Genova,Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ghiorzo","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Oncologica Integrata, Universit\u00e0 degli Studi di Genova,Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Fiammetta","family":"Romano","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Staibano","sequence":"first","affiliation":[{"name":"Dipartimento di Scienze Biomediche Avanzate, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Scalvenzi","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina clinica e Chirurgia, Universit\u00e0 degli Studi di Napoli Federico II, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Ayala","sequence":"first","affiliation":[{"name":"National Cancer Institute, \u2018Fondazione G. 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