{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T20:26:06Z","timestamp":1790886366132,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,21]],"date-time":"2017-08-21T00:00:00Z","timestamp":1503273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R01CA143167"],"award-info":[{"award-number":["R01CA143167"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2017,11,15]]},"abstract":"<jats:p>The <jats:italic>DICER1<\/jats:italic> syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli\u2010Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic <jats:italic>DICER1<\/jats:italic> variation in the general population is unknown. We examined three publicly\u2010available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes (1,000 G) and the Exome Sequencing Project (ESP). To avoid over\u2010estimation of pathogenic <jats:italic>DICER1<\/jats:italic> variation from cancer\u2010associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC. All datasets were annotated with snpEff and ANNOVAR and variants were classified into four categories: likely benign (LB), unknown significance (VUS), likely pathogenic (LP), or pathogenic (P). The prevalence of <jats:italic>DICER1<\/jats:italic> P\/LP variants was 1:870 to 1:2,529 in ExAC\u2010nonTCGA (53,105 exomes) estimated by metaSVM and REVEL\/CADD, respectively. A more stringent prevalence calculation considering only loss\u2010of\u2010function and previously\u2010published pathogenic variants detected in ExAC\u2010nonTCGA, yielded a prevalence of 1:10,600. Despite the rarity of most <jats:italic>DICER1<\/jats:italic> syndrome tumors, pathogenic <jats:italic>DICER1<\/jats:italic> variation is more common than expected. If confirmed, these findings may inform future sequencing\u2010based newborn screening programs for PPB, CN and SLCT, in which early detection improves prognosis.<\/jats:p>","DOI":"10.1002\/ijc.30907","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T07:46:38Z","timestamp":1501141598000},"page":"2030-2036","source":"Crossref","is-referenced-by-count":88,"title":["The prevalence of <i>DICER1<\/i> pathogenic variation in population databases"],"prefix":"10.1002","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6274-2841","authenticated-orcid":false,"given":"Jung","family":"Kim","sequence":"first","affiliation":[{"name":"Clinical Genetics Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute Rockville MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda","family":"Field","sequence":"additional","affiliation":[{"name":"Division of Pathology and Center for Genetic Medicine Research Children's National Health System Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris Ann P.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Cancer and Blood Disorders Children's Hospitals and Clinics of Minnesota Minneapolis MN"},{"name":"International Pleuropulmonary Blastoma Registry Minneapolis MN"},{"name":"International Ovarian and Testicular Stromal Tumor Registry Minneapolis MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Ashley","family":"Hill","sequence":"additional","affiliation":[{"name":"Division of Pathology and Center for Genetic Medicine Research Children's National Health System Washington DC"},{"name":"Department of Integrative Systems Biology George Washington University School of Medicine and Health Sciences Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R.","family":"Stewart","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch Division of Cancer Epidemiology and Genetics, National Cancer Institute Rockville MD"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/35053110"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2014.11.030"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1174334"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.6746.1"},{"key":"e_1_2_6_6_1","volume-title":"GeneReviews(R)","author":"Doros L","year":"1993"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1318-7"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.081216"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.1910"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24020"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2954"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.29032"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_6_15_1","unstructured":"Exome Variant ServerNHLBIGO.Exome Sequencing Project (ESP). 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