{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:51:38Z","timestamp":1791391898654,"version":"4.3.3"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation is present in the majority of patients with myeloproliferative cancer (polycythaemia vera, essential thrombocytosis, and primary myelofibrosis). However, the diagnostic value of the <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation for myeloproliferative cancer in the general population is unknown. We examined this question in 49\u00a0488 individuals from the <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>openhagen <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>eneral <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>opulation <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>tudy. We also examined the association between <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation, rs10974944 germline genotype, haematological phenotype, any cancer, haematological cancer, myeloproliferative cancer, ischaemic heart disease, and venous thromboembolism. The <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation was present in 0\u00b71% (<jats:italic>n<\/jats:italic>\u00a0=\u00a068), increasing across rs10974944 germline genotypes (<jats:italic>P<\/jats:italic>\u2010trend\u00a0=\u00a00\u00b7001). <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation positives <jats:italic>versus<\/jats:italic> negatives had higher erythrocyte (<jats:italic>P<\/jats:italic>\u00a0=\u00a02\u00a0\u00d7\u00a010<jats:sup>\u22125<\/jats:sup>), thrombocyte (<jats:italic>P<\/jats:italic>\u00a0=\u00a02\u00a0\u00d7\u00a010<jats:sup>\u221216<\/jats:sup>), and leucocyte (<jats:italic>P<\/jats:italic>\u00a0=\u00a04\u00a0\u00d7\u00a010<jats:sup>\u22129<\/jats:sup>) counts, and had 2\u00b77\u2010\/2\u00b75\u2010fold risk of cancer (prevalent\/incident), 44\u2010\/28\u2010fold risk of haematological cancer, 221\u2010\/97\u2010fold risk of myeloproliferative cancer, 2\u00b72\u2010\/1\u00b72\u2010fold risk of ischaemic heart disease, and 3\u00b71\u2010\/1\u00b70\u2010fold risk of venous thromboembolism. By combining conventional haematological parameters with a test for the <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation, myelo;?&gt;proliferative cancer could be identified or ruled out with a sensitivity of 47\u2013100% and a specificity of 98\u2013100%. In conclusion, in the general population the <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2 <\/jats:italic><jats:styled-content style=\"fixed-case\">V<\/jats:styled-content>617<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content> somatic mutation has a high diagnostic value for myeloproliferative cancer when combined with conventional haematological parameters.<\/jats:p>","DOI":"10.1111\/bjh.12099","type":"journal-article","created":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T08:56:26Z","timestamp":1351760186000},"page":"70-79","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":104,"title":["Diagnostic value of <i><scp>JAK<\/scp>2 <\/i><scp>V<\/scp>617<scp>F<\/scp> somatic mutation for myeloproliferative cancer in 49\u00a0488 individuals from the general population"],"prefix":"10.1111","volume":"160","author":[{"given":"Camilla","family":"Nielsen","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"The Copenhagen General Study Population Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"Faculty of Health Sciences University of Copenhagen Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik S.","family":"Birgens","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences University of Copenhagen Herlev Denmark"},{"name":"Department of Haematology Herlev Hospital Copenhagen University Hospital Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00f8rge G.","family":"Nordestgaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"The Copenhagen General Study Population Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"Faculty of Health Sciences University of Copenhagen Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stig E.","family":"Bojesen","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"The Copenhagen General Study Population Herlev Hospital Copenhagen University Hospital Herlev Denmark"},{"name":"Faculty of Health Sciences University of Copenhagen Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-07-099184"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1179\/102453309X12473408860226"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-03-0897"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.299.21.2524"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.334"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.342"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beha.2005.07.011"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.2007.00960.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21627"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.033191"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.298.3.299"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.341"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2009.110"},{"key":"e_1_2_7_15_1","first-page":"441","article-title":"The Danish Civil Registration System A cohort of eight million persons","volume":"53","author":"Pedersen C.B.","year":"2006","journal-title":"Danish Medical Bulletin"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404292"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2007.02424.x"},{"key":"e_1_2_7_18_1","first-page":"220","article-title":"The Danish Cancer Registry, a self\u2010reporting national cancer registration system with elements of active data collection","volume":"95","author":"Storm H.H.","year":"1991","journal-title":"IARC Scientific Publications"},{"key":"e_1_2_7_19_1","first-page":"535","article-title":"The Danish Cancer Registry \u2013 history, content, quality and use","volume":"44","author":"Storm H.H.","year":"1997","journal-title":"Danish Medical Bulletin"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404955"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrclinonc.2009.149"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.09.011"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404854"},{"key":"e_1_2_7_24_1","volume-title":"Third report of the Expert Committee on Health Statistics","author":"World Health Organization","year":"1952"},{"key":"e_1_2_7_25_1","volume-title":"International Classification of Diseases and Related Health Problems","author":"World Health Organization","year":"2004"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-03-009472"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0707402"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjh.12099","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.12099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T15:47:51Z","timestamp":1700668071000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.12099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"alternative-id":["10.1111\/bjh.12099"],"URL":"https:\/\/doi.org\/10.1111\/bjh.12099","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11]]},"assertion":[{"value":"2012-06-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-09-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-11-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}