{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T03:37:17Z","timestamp":1789616237318,"version":"build-2803163510"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:00:00Z","timestamp":1697155200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Association Neurofibromatoses et Recklinghausen - Fondation CAP NF"},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002738","name":"Assistance Publique-H\u00f4pitaux de Paris","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002738","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is characterized by the highly variable and unpredictable development of benign peripheral nerve sheath tumours: cutaneous (cNFs), subcutaneous (scNFs) and plexiform (pNFs) neurofibromas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To identify neurofibroma modifier genes, in order to develop a database of patients with NF1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>All patients were phenotypically evaluated by a medical practitioner using a standardized questionnaire and the causal NF1 variant identified. We enrolled 1333 patients with NF1 who were genotyped for &amp;gt; 7 million common variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A genome-wide association case-only study identified a significant association with 9q21.33 in the pNF phenotype in the discovery cohort. Twelve, three and four regions suggestive of association at the P \u2264 1 \u00d7 10\u20136 threshold were identified for pNFs, cNFs and scNFs, respectively. Evidence of replication was observed for 4, 2 and 6 loci, including 168 candidate modifier protein-coding genes. Among the candidate modifier genes, some were implicated in the RAS\u2013mitogen-activated protein kinase pathway, cell-cycle control and myelination. Using an original CRISPR\/Cas9-based functional assay, we confirmed GAS1 and SPRED2 as pNF and scNF candidate modifiers, as their inactivation specifically affected NF1-mutant Schwann cell growth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our study may shed new light on the pathogenesis of NF1-associated neurofibromas and will, hopefully, contribute to the development of personalized care for patients with this deleterious and life-threatening condition.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjd\/ljad390","type":"journal-article","created":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T00:32:56Z","timestamp":1697070776000},"page":"226-243","source":"Crossref","is-referenced-by-count":11,"title":["Identification of potential common genetic modifiers of\u00a0neurofibromas: a genome-wide association study in\u00a01333 patients with neurofibromatosis type 1"],"prefix":"10.1093","volume":"190","author":[{"given":"Laurence","family":"Pacot","sequence":"first","affiliation":[{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, H\u00f4pital Cochin, DMU BioPhyGen, AP-HP, Centre-Universit\u00e9 Paris Cit\u00e9 , Paris , France"},{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, UFR de Pharmacie de Paris, Universit\u00e9 Paris Cit\u00e9 , CARPEM, Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Sabbagh","sequence":"additional","affiliation":[{"name":"UMR 261 MERIT, Institut de Recherche pour le D\u00e9veloppement, UFR de Pharmacie de Paris, Universit\u00e9 Paris Cit\u00e9 , Paris , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Sohier","sequence":"additional","affiliation":[{"name":"Service de Pathologie, H\u00f4pital Cochin, AP-HP, Centre-Universit\u00e9 Paris Cit\u00e9 , Paris , 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