{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:50Z","timestamp":1791041930663,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"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":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in <jats:italic>PTPN11<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, <jats:italic>SOS1<\/jats:italic>, and <jats:italic>RAF1<\/jats:italic>. We performed <jats:italic>SOS1, RAF1, BRAF, MEK1<\/jats:italic>, and <jats:italic>MEK2<\/jats:italic> mutation analysis in a cohort of 102 <jats:italic>PTPN11<\/jats:italic>\u2010 and <jats:italic>KRAS<\/jats:italic>\u2010negative NS patients and found pathogenic <jats:italic>SOS1<\/jats:italic> mutations in 10, <jats:italic>RAF1<\/jats:italic> mutations in 4, and <jats:italic>BRAF<\/jats:italic> mutations in 2 patients. Three novel <jats:italic>SOS1<\/jats:italic> mutations were found. One was classified as a rare benign variant and the other remains unclassified. We confirm a high prevalence of pulmonic stenosis and ectodermal abnormalities in <jats:italic>SOS1<\/jats:italic>\u2010positive patients. Three patients with <jats:italic>SOS1<\/jats:italic> mutations presented with tumors (embryonal rhabdomyosarcoma, Sertoli cell testis tumor, and granular cell tumors of the skin). One patient with a <jats:italic>RAF1<\/jats:italic> mutation had a lesion suggestive for a giant cell tumor. This is the first report describing different tumor types in NS patients with germ line <jats:italic>SOS1<\/jats:italic> mutations. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20735","type":"journal-article","created":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T19:27:28Z","timestamp":1259695648000},"page":"242-252","source":"Crossref","is-referenced-by-count":64,"title":["Tumor spectrum in children with Noonan syndrome and <i>SOS1<\/i> or <i>RAF1<\/i> mutations"],"prefix":"10.1002","volume":"49","author":[{"given":"Ellen","family":"Denayer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomy","family":"de Ravel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Griet","family":"Van 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