{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T20:16:47Z","timestamp":1779913007057,"version":"3.53.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World j. surg."],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>RET proto\u2010oncogene mutations are associated with medullary thyroid carcinomas usually requiring preventive thyroidectomy in gene carriers. We present a large kindred with the Y791F mutation in the RET proto\u2010oncogene that did not have medullary thyroid carcinomas.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>Eight members of a Danish family with the Y791F mutation participated. All gene carriers underwent pentagastrin testing, and measurements of serum calcitonin. In the index person, exons 10, 11, and 13\u201316 of the RET proto\u2010oncogene were screened. In the rest of the individuals only exon 13 was analysed. Mutation analysis was done by direct bidirectional sequencing of PCR products on an ABI 3100 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The index person was screened genetically due to goitre at a young age. A total of 27\u00a0members of the family underwent genetic testing. Twelve (44.4%, 95% CI: 25.5\u201364.7%) had the mutation (age range 13\u201384 years). None of these had abnormal pentagastrin tests (0%, 95% CI: 0\u201326.5%). We found no significant differences in basal serum calcitonin concentrations between gene carriers (mean \u00b1 SD: 0.16 \u00b1 0.54 pmol\/l, <jats:italic>n<\/jats:italic> = 11) and non\u2010gene carriers (0.55 \u00b1 0.86 pmol\/l, <jats:italic>n<\/jats:italic> = 6, 2 <jats:italic>P<\/jats:italic> = 0.29). None showed signs of primary hyperparathyroidism or phaeochromocytoma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The Y791F RET proto\u2010oncogene mutation may have a low penetrance. In selected cases, prophylactic thyroidectomy may be replaced by watchful waiting with repeated pentagastrin testing, provided careful evaluation of risks and benefits is performed.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s00268-006-0446-1","type":"journal-article","created":{"date-parts":[[2007,2,15]],"date-time":"2007-02-15T14:23:25Z","timestamp":1171549405000},"page":"996-1001","source":"Crossref","is-referenced-by-count":14,"title":["Codon Y791F Mutations in a Large Kindred: Is Prophylactic Thyroidectomy Always Indicated?"],"prefix":"10.1002","volume":"31","author":[{"given":"Peter","family":"Vestergaard","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Metabolism C Aarhus Sygehus, Aarhus University Hospital Aarhus, Tage Hansens Gade 2 8000 Aarhus C Denmark"},{"name":"Osteoporosis Clinic Aarhus Amtssygehus Tage Hansens Gade 2 8000 Aarhus C Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Else Marie","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Molecular Diagnostic Laboratory, Department of Clinical Biochemistry Skejby Sygehus, Aarhus University Hospital Brendstrupgaardsvej 8200 Aarhus N Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helle","family":"Brockstedt","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Silkeborg Sygehus, Aarhus University Hospital Falkevej 1\u20103 8600 Silkeborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peer","family":"Christiansen","sequence":"additional","affiliation":[{"name":"Department of Surgery L Aarhus Sygehus, Aarhus University Hospital Tage Hansens Gade 2 8000 Aarhus C Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2]]},"reference":[{"key":"e_1_2_2_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11864\u2010004\u20100022\u20106"},{"key":"e_1_2_2_3_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2005.15.531"},{"key":"e_1_2_2_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.138.4.409"},{"key":"e_1_2_2_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102265.2004.02037.x"},{"key":"e_1_2_2_6_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008\u20105472.CAN\u201004\u20102363"},{"key":"e_1_2_2_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.3.770"},{"key":"e_1_2_2_8_2","doi-asserted-by":"publisher","DOI":"10.1089\/1050725041692990"},{"key":"e_1_2_2_9_2","doi-asserted-by":"publisher","DOI":"10.1089\/105072502320288393"},{"key":"e_1_2_2_10_2","doi-asserted-by":"publisher","DOI":"10.4158\/EP.10.1.5"},{"key":"e_1_2_2_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00268\u2010002\u20106487\u20101"},{"key":"e_1_2_2_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000658\u2010200211000\u201000006"},{"key":"e_1_2_2_13_2","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20102003\u201042555"},{"key":"e_1_2_2_14_2","doi-asserted-by":"publisher","DOI":"10.1067\/msy.2002.128559"},{"key":"e_1_2_2_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00268\u2010004\u20107640\u20109"},{"key":"e_1_2_2_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/37.9.1521"},{"key":"e_1_2_2_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102362.1992.tb01441.x"},{"key":"e_1_2_2_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000658\u2010199409000\u201000002"},{"key":"e_1_2_2_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098\u20101004(1996)8:1<64::AID\u2010HUMU9>3.0.CO;2\u2010P"},{"key":"e_1_2_2_20_2","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2001.19.5.1374"},{"key":"e_1_2_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201199"},{"key":"e_1_2_2_22_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.3.765"},{"key":"e_1_2_2_23_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1320171"}],"container-title":["World 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