{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:15:47Z","timestamp":1761956147702,"version":"build-2065373602"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1997,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n        <jats:p>Germline point mutations in the <jats:italic>RET<\/jats:italic> proto-oncogene are associated with multiple endocrine neoplasia type 2 (2A and 2B) and familial medullary thyroid carcinoma. On the other hand, somatic point mutations of <jats:italic>RET<\/jats:italic> have been described in a subset of sporadic medullary thyroid carcinomas (MTCs).<\/jats:p>\n        <jats:p>We examined tumor and blood DNA of thirteen apparently sporadic MTC patients for mutations in <jats:italic>RET<\/jats:italic> exons 10, 11, 13, 15 and 16 to determine whether they had true sporadic tumors or either <jats:italic>de novo<\/jats:italic> or occult germline mutations.<\/jats:p>\n        <jats:p>Three different somatic missense mutations were documented in seven patients. In five patients a mutation in exon 16, codon 918, (ATG\u2192ACG) causing a Met\u2192Thr substitution was found. In the remaining two patients the mutation affected exon 11: codon 630 in one case and codon 634 in the other. In both cases a T\u2192C transversion was identified causing a Cys\u2192Arg substitution.<\/jats:p>\n        <jats:p>In conclusion, absence of a germline mutation in <jats:italic>RET<\/jats:italic>exons 10, 11, 13 or 16 is evidence against an inherited form in all cases. In seven patients, identification of a somatic mutation supported the previous clinical diagnosis of sporadic medullary thyroid carcinoma; in one of them we identified a hitherto undescribed somatic point mutation at codon 630.<\/jats:p>\n        <jats:p><jats:italic>European Journal of Endocrinology<\/jats:italic> <jats:bold>136<\/jats:bold> 42 3\u2013426<\/jats:p>","DOI":"10.1530\/eje.0.1360423","type":"journal-article","created":{"date-parts":[[2008,12,15]],"date-time":"2008-12-15T22:12:49Z","timestamp":1229379169000},"page":"423-426","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":19,"title":["Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain"],"prefix":"10.1093","volume":"136","author":[{"given":"Maria Jo\u00e3o","family":"Bugalho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00e3o Pedro","family":"Frade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Rosa","family":"Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Limbert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Sobrinho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/136\/4\/eje_136_4_015.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/136\/4\/eje_136_4_015.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:23:35Z","timestamp":1676391815000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/136\/4\/423\/6754553"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,4]]},"references-count":0,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1530\/eje.0.1360423","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"type":"print","value":"0804-4643"},{"type":"electronic","value":"1479-683X"}],"subject":[],"published":{"date-parts":[[1997,4]]}}}