{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T00:50:08Z","timestamp":1786409408499,"version":"build-2736575974"},"reference-count":48,"publisher":"The Endocrine Society","license":[{"start":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T00:00:00Z","timestamp":1713830400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004267","name":"Royal Adelaide Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004267","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001232","name":"Royal Australasian College of Physicians","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001232","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001114","name":"Endocrine Society of Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001114","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>CHEK2 is a cell cycle checkpoint regulator gene with a long-established role as a clinically relevant, moderate risk breast cancer predisposition gene, with greater risk ascribed to truncating variants than missense variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To assess the rate and pathogenicity of CHEK2 variants amongst individuals with pituitary adenomas (PAs).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We assessed 165 individuals with PAs for CHEK2 variants. The study population comprised a primary cohort of 29 individuals who underwent germline and tumor whole-exome sequencing, and a second, independent cohort of 136 individuals who had a targeted next-generation sequencing panel performed on both germline and tumor DNA (n = 52) or germline DNA alone (n = 84).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified rare, coding, nonsynonymous germline CHEK2 variants amongst 3 of 29 (10.3%) patients in our primary cohort, and in 5 of 165 (3.0%) patients overall, with affected patients having a range of PA types (prolactinoma, thyrotropinoma, somatotropinoma, and nonfunctioning PA). No somatic variants were identified. Two variants were definitive null variants (c.1100delC, c.444 + 1G &amp;gt; A), classified as pathogenic. Two variants were missense variants (p.Asn186His, p.Thr476Met), classified as likely pathogenic. Even when considering the null variants only, the rate of CHEK2 variants was higher in our cohort compared to national control data (1.8% vs 0.5%; P = .049).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This is the first study to suggest a role for the breast cancer predisposition gene, CHEK2, in pituitary tumorigenesis, with pathogenic\/likely pathogenic variants found in 3% of patients with PAs. As PAs are relatively common and typically lack classic autosomal dominant family histories, risk alleles\u2014such as these variants found in CHEK2\u2014might be a significant contributor to PA risk in the general population.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae268","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T09:58:02Z","timestamp":1713866282000},"source":"Crossref","is-referenced-by-count":7,"title":["Increased Prevalence of Germline Pathogenic <i>CHEK2<\/i> Variants in Individuals With Pituitary Adenomas"],"prefix":"10.1210","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0127-6482","authenticated-orcid":false,"given":"Sunita M C","family":"De Sousa","sequence":"first","affiliation":[{"name":"Endocrine & Metabolic Unit, Royal Adelaide Hospital , Adelaide, SA 5000 , Australia"},{"name":"South Australian Adult Genetics Unit, Royal Adelaide Hospital , Adelaide, SA 5000 , Australia"},{"name":"Adelaide Medical School, University of Adelaide , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2859-5566","authenticated-orcid":false,"given":"Ann","family":"McCormack","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, St Vincent's Hospital , Sydney, NSW 2000 , Australia"},{"name":"Hormones and Cancer Group, Garvan Institute of Medical Research , Sydney, NSW 2000 , Australia"},{"name":"St Vincent's Clinical School, University of New South Wales , Sydney, NSW 2000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Orsmond","sequence":"additional","affiliation":[{"name":"Hormones and Cancer Group, Garvan Institute of Medical Research , Sydney, NSW 2000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angeline","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Royal Melbourne Hospital , Melbourne, VIC 3000 , Australia"},{"name":"Department of Medicine, University of Melbourne , Melbourne, VIC 3000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher J","family":"Yates","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology, Royal Melbourne Hospital , Melbourne, VIC 3000 , Australia"},{"name":"Department of Medicine, University of Melbourne , Melbourne, VIC 3000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1545-0368","authenticated-orcid":false,"given":"Roderick","family":"Clifton-Bligh","sequence":"additional","affiliation":[{"name":"Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital , Sydney, NSW 2000 , Australia"},{"name":"Faculty of Medicine and Health, The University of Sydney , Sydney, NSW 2000 , Australia"},{"name":"Department of Endocrinology, Royal North Shore Hospital , Sydney, NSW 2000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Santoreneos","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Royal Adelaide Hospital , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"King","sequence":"additional","affiliation":[{"name":"Department of Surgery, University of Melbourne , Melbourne, VIC 3000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghua","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia alliance , Adelaide, SA 5000 , Australia"},{"name":"ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Toubia","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia alliance , Adelaide, SA 5000 , Australia"},{"name":"ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J","family":"Torpy","sequence":"additional","affiliation":[{"name":"Endocrine & Metabolic Unit, Royal Adelaide Hospital , Adelaide, SA 5000 , Australia"},{"name":"Adelaide Medical School, University of Adelaide , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamish S","family":"Scott","sequence":"additional","affiliation":[{"name":"Adelaide Medical School, University of Adelaide , Adelaide, SA 5000 , Australia"},{"name":"Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an SA Pathology and University of South Australia alliance , Adelaide, SA 5000 , Australia"},{"name":"ACRF Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology , Adelaide, SA 5000 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,4,23]]},"reference":[{"issue":"3","key":"2024050317104839900_dgae268-B1","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/cncr.20412","article-title":"The prevalence of pituitary adenomas: a systematic review","volume":"101","author":"Ezzat","year":"2004","journal-title":"Cancer"},{"issue":"10","key":"2024050317104839900_dgae268-B2","doi-asserted-by":"crossref","first-page":"817","DOI":"10.7326\/0003-4819-120-10-199405150-00001","article-title":"Pituitary magnetic resonance imaging in normal human volunteers: occult adenomas in the general population","volume":"120","author":"Hall","year":"1994","journal-title":"Ann Intern Med"},{"issue":"12","key":"2024050317104839900_dgae268-B3","doi-asserted-by":"crossref","first-page":"4769","DOI":"10.1210\/jc.2006-1668","article-title":"High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium","volume":"91","author":"Daly","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"2024050317104839900_dgae268-B4","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1111\/j.1365-2265.2009.03667.x","article-title":"Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK)","volume":"72","author":"Fernandez","year":"2010","journal-title":"Clin Endocrinol (Oxf)"},{"issue":"3","key":"2024050317104839900_dgae268-B5","doi-asserted-by":"crossref","first-page":"e220291","DOI":"10.1530\/JOE-22-0291","article-title":"Pituitary tumours: molecular and genetic aspects","volume":"257","author":"De Sousa","year":"2023","journal-title":"J Endocrinol"},{"issue":"5395","key":"2024050317104839900_dgae268-B6","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1126\/science.282.5395.1893","article-title":"Linkage of ATM to cell cycle regulation by the Chk2 protein kinase","volume":"282","author":"Matsuoka","year":"1998","journal-title":"Science"},{"issue":"10","key":"2024050317104839900_dgae268-B7","doi-asserted-by":"crossref","first-page":"100870","DOI":"10.1016\/j.gim.2023.100870","article-title":"Management of individuals with germline pathogenic\/likely pathogenic variants in CHEK2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Hanson","year":"2023","journal-title":"Genet Med"},{"issue":"5","key":"2024050317104839900_dgae268-B8","doi-asserted-by":"crossref","first-page":"R90","DOI":"10.1186\/bcr3015","article-title":"Breast tumors from CHEK2 1100delC-mutation carriers: genomic landscape and clinical implications","volume":"13","author":"Muranen","year":"2011","journal-title":"Breast Cancer Res"},{"issue":"5","key":"2024050317104839900_dgae268-B9","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1056\/NEJMoa1913948","article-title":"Breast cancer risk genes\u2014association analysis in more than 113,000 women","volume":"384","author":"Dorling","year":"2021","journal-title":"N Engl J Med"},{"issue":"1","key":"2024050317104839900_dgae268-B10","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1038\/s41523-021-00360-3","article-title":"Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing","volume":"7","author":"Southey","year":"2021","journal-title":"NPJ Breast Cancer"},{"issue":"12","key":"2024050317104839900_dgae268-B11","doi-asserted-by":"crossref","first-page":"4397","DOI":"10.3390\/ijerph17124397","article-title":"CHEK2 mutation in patient with multiple endocrine glands tumors. Case report","volume":"17","author":"Szeliga","year":"2020","journal-title":"Int J Environ Res Public Health"},{"key":"2024050317104839900_dgae268-B12","doi-asserted-by":"crossref","first-page":"1024108","DOI":"10.3389\/fendo.2022.1024108","article-title":"Case report: two sisters with a germline CHEK2 variant and distinct endocrine neoplasias","volume":"13","author":"Vallera","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"2","key":"2024050317104839900_dgae268-B13","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.aace.2021.10.006","article-title":"Recurrent acromegaly in a patient with a CHEK2 mutation","volume":"8","author":"Perosevic","year":"2022","journal-title":"AACE Clin Case Rep"},{"issue":"Suppl 2","key":"2024050317104839900_dgae268-B14","first-page":"e253","article-title":"Delayed craniospinal metastasis of aggressive nonfunctioning pituitary adenomas as pituitary carcinomas","volume":"83","author":"Raghu","year":"2022","journal-title":"J Neurol Surg B Skull Base"},{"issue":"1","key":"2024050317104839900_dgae268-B15","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s12902-020-0495-8","article-title":"A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing\u2019s disease","volume":"20","author":"De Sousa","year":"2020","journal-title":"BMC Endocr Disord"},{"issue":"4","key":"2024050317104839900_dgae268-B16","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1007\/s12022-019-09587-0","article-title":"The genomic landscape of sporadic prolactinomas","volume":"30","author":"De Sousa","year":"2019","journal-title":"Endocr Pathol"},{"key":"2024050317104839900_dgae268-B17","doi-asserted-by":"crossref","first-page":"MON-LB48","DOI":"10.1210\/jendso\/bvaa046.2282","article-title":"MON-LB48 The genomic landscape of sporadic thyrotrophinomas","volume":"4","author":"Shen","year":"2020","journal-title":"J Endocr Soc"},{"key":"2024050317104839900_dgae268-B18","doi-asserted-by":"crossref","first-page":"1305606","DOI":"10.3389\/fendo.2023.1305606","article-title":"PAM variants in patients with thyrotrophinomas, cyclical Cushing\u2019s disease and prolactinomas","volume":"14","author":"De Sousa","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"5","key":"2024050317104839900_dgae268-B19","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1210\/jc.2008-0125","article-title":"The diagnosis of Cushing\u2019s syndrome: an endocrine society clinical practice guideline","volume":"93","author":"Nieman","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2024050317104839900_dgae268-B20","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1530\/EJE-16-0944","article-title":"Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours","volume":"176","author":"De Sousa","year":"2017","journal-title":"Eur J Endocrinol"},{"issue":"1","key":"2024050317104839900_dgae268-B21","doi-asserted-by":"crossref","first-page":"17052","DOI":"10.1038\/s41598-019-52000-3","article-title":"Development and validation of a targeted gene sequencing panel for application to disparate cancers","volume":"9","author":"McCabe","year":"2019","journal-title":"Sci Rep"},{"key":"2024050317104839900_dgae268-B22","doi-asserted-by":"crossref","unstructured":"De Sousa SMC, McCormack A, Orsmond A, et al \u00a0Supplemental data: \u201cIncreased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas\u201d. Figshare. 2024. https:\/\/doi.org\/10.6084\/m9.figshare.25679553.","DOI":"10.1210\/clinem\/dgae268"},{"issue":"5","key":"2024050317104839900_dgae268-B23","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"11","key":"2024050317104839900_dgae268-B24","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"W1","key":"2024050317104839900_dgae268-B25","doi-asserted-by":"crossref","first-page":"W296","DOI":"10.1093\/nar\/gky427","article-title":"SWISS-MODEL: homology modelling of protein structures and complexes","volume":"46","author":"Waterhouse","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2024050317104839900_dgae268-B26","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. An e-science approach with life scientist friendly interfaces","volume":"11","author":"Venselaar","year":"2010","journal-title":"BMC Bioinformatics"},{"issue":"D1","key":"2024050317104839900_dgae268-B27","doi-asserted-by":"crossref","first-page":"D439","DOI":"10.1093\/nar\/gkab1061","article-title":"AlphaFold protein structure database: massively expanding the structural coverage of protein-sequence space with high-accuracy models","volume":"50","author":"Varadi","year":"2022","journal-title":"Nucleic Acids Res"},{"issue":"7873","key":"2024050317104839900_dgae268-B28","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"issue":"1","key":"2024050317104839900_dgae268-B29","doi-asserted-by":"crossref","first-page":"2506","DOI":"10.1038\/s41467-020-16052-8","article-title":"Somatic SF3B1 hotspot mutation in prolactinomas","volume":"11","author":"Li","year":"2020","journal-title":"Nat Commun"},{"issue":"3","key":"2024050317104839900_dgae268-B30","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1093\/ejendo\/lvad114","article-title":"Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours","volume":"189","author":"Simon","year":"2023","journal-title":"Eur J Endocrinol"},{"issue":"4","key":"2024050317104839900_dgae268-B31","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1158\/0008-5472.CAN-21-1845","article-title":"Functional analysis identifies damaging CHEK2 missense variants associated with increased cancer risk","volume":"82","author":"Boonen","year":"2022","journal-title":"Cancer Res"},{"issue":"6","key":"2024050317104839900_dgae268-B32","doi-asserted-by":"crossref","first-page":"R119","DOI":"10.1186\/bcr3062","article-title":"CHEK2 contribution to hereditary breast cancer in non-BRCA families","volume":"13","author":"Desrichard","year":"2011","journal-title":"Breast Cancer Res"},{"issue":"12","key":"2024050317104839900_dgae268-B33","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1038\/gim.2018.42","article-title":"The ACMG\/AMP reputable source criteria for the interpretation of sequence variants","volume":"20","author":"Biesecker","year":"2018","journal-title":"Genet Med"},{"issue":"16","key":"2024050317104839900_dgae268-B34","doi-asserted-by":"crossref","first-page":"3037","DOI":"10.1158\/1078-0432.CCR-23-0212","article-title":"ENIGMA CHEK2gether project: a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk","volume":"29","author":"Stolarova","year":"2023","journal-title":"Clin Cancer Res"},{"issue":"1","key":"2024050317104839900_dgae268-B35","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1530\/EO-21-0033","article-title":"Pituitary tumors and the risk of other malignancies: is the relationship coincidental or causal?","volume":"2","author":"Pekic","year":"2022","journal-title":"Endocr Oncol"},{"issue":"1","key":"2024050317104839900_dgae268-B36","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/s12022-019-09598-x","article-title":"A novel expression profile of cell cycle and DNA repair proteins in nonfunctioning pituitary adenomas","volume":"31","author":"Metin-Armagan","year":"2020","journal-title":"Endocr Pathol"},{"issue":"3","key":"2024050317104839900_dgae268-B37","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s12253-016-0163-5","article-title":"Systematic investigation of expression of G2\/M transition genes reveals CDC25 alteration in nonfunctioning pituitary adenomas","volume":"23","author":"Butz","year":"2017","journal-title":"Pathol Oncol Res"},{"issue":"4","key":"2024050317104839900_dgae268-B38","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1136\/jmedgenet-2017-104957","article-title":"Risk category system to identify pituitary adenoma patients with AIP mutations","volume":"55","author":"Caimari","year":"2018","journal-title":"J Med Genet"},{"key":"2024050317104839900_dgae268-B39","first-page":"PO.19.00178","article-title":"Pathogenic variants in CHEK2 are associated with an adverse prognosis in symptomatic early-onset breast cancer","volume":"4","author":"Greville-Heygate","year":"2020","journal-title":"JCO Precis Oncol"},{"issue":"2","key":"2024050317104839900_dgae268-B40","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1086\/346094","article-title":"Mutations in CHEK2 associated with prostate cancer risk","volume":"72","author":"Dong","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2024050317104839900_dgae268-B41","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1056\/NEJMoa2005936","article-title":"A population-based study of genes previously implicated in breast cancer","volume":"384","author":"Hu","year":"2021","journal-title":"N Engl J Med"},{"issue":"4","key":"2024050317104839900_dgae268-B42","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/sj.bjc.6602381","article-title":"Low frequency of CHEK2 1100delC allele in Australian multiple-case breast cancer families: functional analysis in heterozygous individuals","volume":"92","author":"Jekimovs","year":"2005","journal-title":"Br J Cancer"},{"issue":"3","key":"2024050317104839900_dgae268-B43","doi-asserted-by":"crossref","first-page":"eabj8357","DOI":"10.1126\/sciadv.abj8357","article-title":"SF3B1 homeostasis is critical for survival and therapeutic response in T cell leukemia","volume":"8","author":"Han","year":"2022","journal-title":"Sci Adv"},{"issue":"8","key":"2024050317104839900_dgae268-B44","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1210\/clinem\/dgac162","article-title":"MEN4, the MEN1 mimicker: a case series of three phenotypically heterogenous patients with unique CDKN1B mutations","volume":"107","author":"Seabrook","year":"2022","journal-title":"J Clin Endocrinol Metab"},{"issue":"12","key":"2024050317104839900_dgae268-B45","doi-asserted-by":"crossref","first-page":"2516","DOI":"10.1016\/j.gim.2022.08.021","article-title":"Genetic drivers of Cushing\u2019s disease: frequency and associated phenotypes","volume":"24","author":"Hern\u00e1ndez-Ram\u00edrez","year":"2022","journal-title":"Genet Med"},{"issue":"3","key":"2024050317104839900_dgae268-B46","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1158\/1055-9965.EPI-20-1319","article-title":"CanRisk tool\u2014a web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants","volume":"30","author":"Carver","year":"2021","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"2024050317104839900_dgae268-B47","doi-asserted-by":"crossref","first-page":"1166076","DOI":"10.3389\/fendo.2023.1166076","article-title":"Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion","volume":"14","author":"Trivellin","year":"2023","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"7","key":"2024050317104839900_dgae268-B48","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1002\/ijc.34390","article-title":"The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients","volume":"152","author":"Wagener","year":"2023","journal-title":"Int J Cancer"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgae268\/57399203\/dgae268.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgae268\/57399203\/dgae268.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T17:11:28Z","timestamp":1714756288000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article\/doi\/10.1210\/clinem\/dgae268\/7656517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,23]]},"references-count":48,"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgae268","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,23]]},"article-number":"dgae268"}}