{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T12:19:07Z","timestamp":1791029947980,"version":"4.1.0"},"reference-count":36,"publisher":"Bioscientifica","issue":"4","content-domain":{"domain":["erc.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:p>\n                    The objective of this study was to assess the occurrence of thyroid cancer and co-occurring\n                    <jats:italic>RET<\/jats:italic>\n                    mutations in a population-based cohort of adult Hirschsprung disease (HD) patients. All 156 patients operated for HD in a tertiary center during 1950\u20131986 were followed for thyroid malignancies up to 2010 through the nationwide Finnish Cancer Registry. Ninety-one individuals participated in clinical and genetic screening, which included serum calcitonin and thyroid ultrasound (US) with cytology. Exons 10, 11, 13, and 16 were sequenced in all, and all exons of RET in 43 of the subjects, including those with thyroid cancer,\n                    <jats:italic>RET<\/jats:italic>\n                    mutations, suspicious clinical findings, and familial or long-segment disease. Through the cancer registry, two cases (aged 35 and 37 years) of medullary thyroid cancer (MTC) were observed; the incidence for MTC was 340-fold (95% CI 52\u20131600) compared with average population. These individuals had C611R and C620R mutations in exon 10. One papillary thyroid cancer without\n                    <jats:italic>RET<\/jats:italic>\n                    mutations was detected by clinical screening. Four subjects (aged 31\u201350 years) with co-occurring\n                    <jats:italic>RET<\/jats:italic>\n                    mutations in exons 10 (C609R;\n                    <jats:italic>n<\/jats:italic>\n                    =1) and 13 (Y791F,\n                    <jats:italic>n<\/jats:italic>\n                    =3) had sporadic short-segment HD with normal thyroid US and serum calcitonin. Three novel mutations and five single-nucleotide polymorphisms were found outside exons 10 and 13 without associated signs of thyroid cancer. MTC-associated\n                    <jats:italic>RET<\/jats:italic>\n                    mutations were restricted to exons 10 and 13 affecting \u223c5% of unselected adults with HD. Clinical thyroid assessment did not improve accuracy of genetic screening, which should not be limited to patients with familial or long-segment disease.\n                  <\/jats:p>","DOI":"10.1530\/erc-13-0082","type":"journal-article","created":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T20:52:51Z","timestamp":1370551971000},"page":"595-602","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":20,"title":["Thyroid cancer and co-occurring RET mutations in Hirschsprung disease"],"prefix":"10.1530","volume":"20","author":[{"given":"Valtter B","family":"Virtanen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eero","family":"Pukkala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Kivisaari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perttu P","family":"Salo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antti","family":"Koivusalo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Arola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e4ivi J","family":"Miettinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Risto J","family":"Rintala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Perola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko P","family":"Pakarinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"issue":"1","key":"1_29780706","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1136\/jmg.2007.053959","volume":"45","year":"2008","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"4","key":"2_18352669","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1210\/me.2003-0173","volume":"18","year":"2004","journal-title":"Molecular Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0888-8809","issn-type":"print"},{"issue":"8","key":"3_16101403","doi-asserted-by":"publisher","first-page":"1381","DOI":"10.1093\/hmg\/4.8.1381","volume":"4","author":"Attie","year":"1995","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"10","key":"4_45220211","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1136\/jmg.36.10.771","volume":"36","year":"1999","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"4","key":"5_15839280","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/S0039-6060(05)80057-1","volume":"117","author":"Borst","year":"1995","journal-title":"Surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0039-6060","issn-type":"print"},{"issue":"12","key":"6_11433387","doi-asserted-by":"publisher","first-page":"5658","DOI":"10.1210\/jc.86.12.5658","volume":"86","author":"Brandi","year":"2001","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"1","key":"7_23506878","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1016\/j.jpedsurg.2006.09.019","volume":"42","author":"Butter","year":"2007","journal-title":"Journal of pediatric surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3468","issn-type":"print"},{"issue":"4","key":"8_14680253","doi-asserted-by":"publisher","first-page":"1579","DOI":"10.1073\/pnas.91.4.1579","volume":"91","author":"Carlson","year":"1994","journal-title":"PNAS","ISSN":"https:\/\/id.crossref.org\/issn\/0027-8424","issn-type":"print"},{"issue":"1","key":"9_37682730","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1093\/hmg\/7.1.129","volume":"7","year":"1998","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"2","key":"10_18709346","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1097\/00005176-200502000-00028","volume":"40","author":"de Groot","year":"2005","journal-title":"Journal of pediatric gastroenterology and nutrition","ISSN":"https:\/\/id.crossref.org\/issn\/0277-2116","issn-type":"print"},{"issue":"7","key":"11_14434977","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1093\/hmg\/2.7.851","volume":"2","author":"Donis-Keller","year":"1993","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"6","key":"12_22172550","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.jpedsurg.2005.03.031","volume":"40","author":"Dvorakova","year":"2005","journal-title":"Journal of pediatric surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3468","issn-type":"print"},{"issue":"1","key":"13_10934837","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1200\/JCO.1999.17.1.380","volume":"17","author":"Eng","year":"1999","journal-title":"Journal of Clinical Oncology","ISSN":"https:\/\/id.crossref.org\/issn\/0732-183X","issn-type":"print"},{"issue":"1","key":"14_35966489","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1210\/jc.2009-1728","volume":"95","year":"2010","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"5","key":"15_17834478","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1002\/humu.10273","volume":"22","author":"Fern\u00a0\u00a0ndez","year":"2003","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"1","key":"16_30311865","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1016\/j.jpedsurg.2007.09.043","volume":"43","author":"Fialkowski","year":"2008","journal-title":"Journal of pediatric surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3468","issn-type":"print"},{"issue":"2","key":"17_22390681","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1530\/eje.1.02216","volume":"155","author":"Frank-Raue","year":"2006","journal-title":"European Journal of Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0804-4643","issn-type":"print"},{"issue":"2","key":"18_31761418","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1111\/j.1365-2265.2008.03215.x","volume":"69","author":"Frank-Raue","year":"2008","journal-title":"Clinical endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0300-0664","issn-type":"print"},{"issue":"1","key":"19_38412761","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1002\/humu.21385","volume":"32","author":"Frank-Raue","year":"2011","journal-title":"Human mutation","ISSN":"https:\/\/id.crossref.org\/issn\/1059-7794","issn-type":"print"},{"issue":"1-2","key":"20_17866267","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1016\/j.ymgme.2003.08.007","volume":"80","author":"Gariepy","year":"2003","journal-title":"Molecular genetics and metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/1096-7192","issn-type":"print"},{"issue":"4","key":"21_5538654","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1016\/0092-8674(90)90659-3","volume":"60","author":"Grieco","year":"1990","journal-title":"Cell","ISSN":"https:\/\/id.crossref.org\/issn\/0092-8674","issn-type":"print"},{"issue":"11","key":"22_10545892","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1136\/jmg.37.11.817","volume":"37","author":"Hansford","year":"2000","journal-title":"Journal of Medical Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"issue":"6461","key":"23_14683993","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/367375a0","volume":"367","author":"Hofstra","year":"1994","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"7","key":"25_10407895","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1053\/jpsu.2000.7763","volume":"35","author":"Martucciello","year":"2000","journal-title":"Journal of pediatric surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3468","issn-type":"print"},{"issue":"6428","key":"26_10248353","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1038\/363458a0","volume":"363","author":"Mulligan","year":"1993","journal-title":"Nature; Physical Science (London)","ISSN":"https:\/\/id.crossref.org\/issn\/1476-4687","issn-type":"print"},{"issue":"12","key":"27_15794434","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1093\/hmg\/3.12.2163","volume":"3","author":"Mulligan","year":"1994","journal-title":"Human Molecular Genetics","ISSN":"https:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"issue":"1","key":"28_14698025","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1038\/ng0194-70","volume":"6","author":"Mulligan","year":"1994","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"5","key":"29_17616688","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/sj.ejhg.5200971","volume":"11","author":"Nishikawa","year":"2003","journal-title":"European journal of human genetics : EJHG","ISSN":"https:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"issue":"10","key":"30_19471683","doi-asserted-by":"publisher","first-page":"1532","DOI":"10.1016\/j.jpedsurg.2005.05.041","volume":"40","author":"Pakarinen","year":"2005","journal-title":"Journal of pediatric surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0022-3468","issn-type":"print"},{"issue":"4","key":"31_16994143","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1067\/msy.2002.121093","volume":"131","author":"Pasini","year":"2002","journal-title":"Surgery","ISSN":"https:\/\/id.crossref.org\/issn\/0039-6060","issn-type":"print"},{"key":"32_46149696","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/978-1-59745-423-0_5","volume":"675","year":"2011","journal-title":"METHODS IN MOLECULAR BIOLOGY"},{"issue":"6","key":"33_6093475","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1046\/j.1365-2796.1998.00332.x","volume":"243","author":"Romeo","year":"1998","journal-title":"Journal of internal medicine","ISSN":"https:\/\/id.crossref.org\/issn\/0954-6820","issn-type":"print"},{"issue":"4","key":"34_6265240","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1136\/gut.43.4.542","volume":"43","author":"Sijmons","year":"1998","journal-title":"Gut","ISSN":"https:\/\/id.crossref.org\/issn\/0017-5749","issn-type":"print"},{"issue":"12","key":"35_23513129","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1007\/s00383-006-1785-6","volume":"22","author":"Skaba","year":"2006","journal-title":"Pediatric surgery international","ISSN":"https:\/\/id.crossref.org\/issn\/0179-0358","issn-type":"print"},{"key":"36_43419490","first-page":"365","volume":"33","year":"1994","journal-title":"Acta oncol&#x00A0;&#x00A0;gica","ISSN":"https:\/\/id.crossref.org\/issn\/0001-6381","issn-type":"print"},{"issue":"3","key":"37_36390249","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1210\/jc.2009-1355","volume":"95","year":"2010","journal-title":"Journal of Clinical Endocrinology &amp; Metabolism","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"}],"container-title":["Endocrine-Related Cancer"],"original-title":[],"link":[{"URL":"https:\/\/erc.bioscientifica.com\/view\/journals\/erc\/20\/4\/595.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/erc.bioscientifica.com\/downloadpdf\/journals\/erc\/20\/4\/595.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:52:01Z","timestamp":1784555521000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/erc\/article\/20\/4\/595-602\/33680"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,6]]},"references-count":36,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1530\/erc-13-0082","relation":{},"ISSN":["1351-0088","1479-6821"],"issn-type":[{"value":"1351-0088","type":"print"},{"value":"1479-6821","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,6]]}}}