{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:43:26Z","timestamp":1787726606231,"version":"build-2784847793"},"reference-count":48,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Data on germline genetics of pituitary adenomas (PAs) using whole-exome sequencing (WES) are limited.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study investigated the germline genetic variants in patients with PAs using WES.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We studied 134 consecutive functioning (80.6%) and nonfunctioning (19.4%) PAs in 61 female (45.5%) and 73 male patients (54.5%). Their median age was 34 years (range, 11-85 years) and 31 patients had microadenomas (23.0%) and 103 macroadenomas (77%). None of these patients had family history of PA or a known PA-associated syndrome. Peripheral blood DNA was isolated and whole-exome sequenced. We used American College of Medical Genetics and Genomics (ACMG) criteria and a number of in silico analysis tools to characterize genetic variant pathogenicity levels and focused on previously reported PA-associated genes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified 35 variants of unknown significance (VUS) in 17 PA-associated genes occurring in 40 patients (29.8%). Although designated VUS by the strict ACGM criteria, they are predicted to be pathogenic by in silico analyses and their extremely low frequencies in 1000 genome, gnomAD, and the Saudi Genome Project databases. Further analysis of these variants by the Alpha Missense analysis tool yielded 8 likely pathogenic variants in 9 patients in the following genes: AIP:c.767C&amp;gt;T (p.S256F), CDH23:c.906G&amp;gt;C (p.E302D), CDH23:c.1096G&amp;gt;A (p.A366T), DICER1:c.620C&amp;gt;T (p.A207V), MLH1:c.955G&amp;gt;A (p.E319K), MSH2:c.148G&amp;gt;A (p.A50T), SDHA:c.869T&amp;gt;C (p.L290P) and USP48 (2 patients): c.2233G&amp;gt;A (p.V745M).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This study suggests that about 6.7% of patients with apparently sporadic PAs carry likely pathogenic variants in PA-associated genes. These findings need further studies to confirm them.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/jendso\/bvae085","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T13:31:58Z","timestamp":1713792718000},"source":"Crossref","is-referenced-by-count":16,"title":["Germline Variants in Sporadic Pituitary Adenomas"],"prefix":"10.1210","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-3624","authenticated-orcid":false,"given":"Ali S","family":"Alzahrani","sequence":"first","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"},{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulghani","family":"Bin Nafisah","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meshael","family":"Alswailem","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Balgees","family":"Alghamdi","sequence":"additional","affiliation":[{"name":"Department of Molecular Oncology, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burair","family":"Alsaihati","sequence":"additional","affiliation":[{"name":"Applied Genomic Technologies Institute, King Abdulaziz City for Science and Technology , P.O. Box 6086, Riyadh 11442 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussain","family":"Aljafar","sequence":"additional","affiliation":[{"name":"Applied Genomic Technologies Institute, King Abdulaziz City for Science and Technology , P.O. Box 6086, Riyadh 11442 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batoul","family":"Baz","sequence":"additional","affiliation":[{"name":"Health and Wellness Sector, King Abdulaziz City for Science and Technology , P.O. Box 6086, Riyadh 11442 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hindi","family":"Alhindi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosra","family":"Moria","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Imran","family":"Butt","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman Ghiatheddin","family":"Alkabbani","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omalkhaire M","family":"Alshaikh","sequence":"additional","affiliation":[{"name":"Internal Medicine, King Salman Bin Abdulaziz Hospital , Riyadh 12769 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anhar","family":"Alnassar","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Bin Afeef","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem","family":"AlQuraa","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rawan","family":"Alsuhaibani","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Alhadlaq","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fayha","family":"Abothenain","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. Box 3354, Riyadh 11211 , Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasser A","family":"Altwaijry","sequence":"additional","affiliation":[{"name":"Department of Medicine, King Faisal Specialist Hospital & Research Center , P.O. 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