{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T19:25:46Z","timestamp":1793042746563,"version":"4.5.0"},"reference-count":79,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T00:00:00Z","timestamp":1741737600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000833","name":"Rosetrees Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015652","name":"Barts Charity","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015652","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"NIHR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009032","name":"Pfizer Ltd","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009032","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007270","name":"University of Michigan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007270","id-type":"DOI","asserted-by":"publisher"}]},{"name":"HSC R&D Division"},{"DOI":"10.13039\/501100001626","name":"Public Health Agency","doi-asserted-by":"publisher","award":["EAT\/5498\/18"],"award-info":[{"award-number":["EAT\/5498\/18"]}],"id":[{"id":"10.13039\/501100001626","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Trust Clinical career Development Fellowship","award":["219606\/Z\/19\/Z"],"award-info":[{"award-number":["219606\/Z\/19\/Z"]}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Exeter Biomedical Research Centre"},{"name":"Exeter","award":["125715"],"award-info":[{"award-number":["125715"]}]},{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004856","name":"Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100030827","name":"NHS","doi-asserted-by":"publisher","award":["218242\/Z\/19\/Z"],"award-info":[{"award-number":["218242\/Z\/19\/Z"]}],"id":[{"id":"10.13039\/100030827","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and\/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G &amp;gt; A; p.(Arg304Gln) (R304Q) AIP variant has been controversial. Recent data from public exome\/genome databases show this variant is not infrequent. The objective of this work was to reassess the pathogenicity of R304Q based on clinical, genomic, and functional assay data.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>Data were collected on published R304Q pituitary neuroendocrine tumour cases and from International Familial Isolated Pituitary Adenoma Consortium R304Q cases (n = 38, R304Q cohort). Clinical features, population cohort frequency, computational analyses, prediction models, presence of loss-of-heterozygosity, and in vitro\/in vivo functional studies were assessed and compared with data from pathogenic\/likely pathogenic AIP variant patients (AIPmut cohort, n = 184).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of 38 R304Q patients, 61% (23\/38) had growth hormone excess, in contrast to 80% of AIPmut cohort (147\/184, P &amp;lt; .001). R304Q cohort was older at disease onset and diagnosis than the AIPmut cohort (median [quartiles] onset: 25 y [16-35] vs 16 y [14-23], P &amp;lt; .001; median [quartiles] diagnosis: 36 y [24-44] vs 21 y [15-29], P &amp;lt; .001). R304Q is present in gnomADv2.1 (0.31%) and UK Biobank (0.16%), including three persons with homozygous R304Q. No loss-of-heterozygosity was detected in four R304Q pituitary neuroendocrine tumour samples. In silico predictions and experimental data were conflicting.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Evidence suggests that R304Q is not pathogenic for pituitary neuroendocrine tumour. We recommend changing this variant classification to likely benign and do not recommend pre-symptomatic genetic testing of family members or follow-up of already identified unaffected individuals with the R304Q variant.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf044","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T08:26:57Z","timestamp":1741768017000},"page":"385-397","source":"Crossref","is-referenced-by-count":7,"title":["Reassessing the role of the p.(Arg304Gln) missense <i>AIP<\/i> variant in pituitary tumorigenesis"],"prefix":"10.1093","volume":"192","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5491-6730","authenticated-orcid":false,"given":"Paul Benjamin","family":"Loughrey","sequence":"first","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]},{"name":"Patrick G Johnston Centre for Cancer Research, Queen's University Belfast , Belfast, BT9 7AE ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadira B","family":"Mothojakan","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Iacovazzo","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankit","family":"Arni","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, University of Exeter Medical School , Exeter, EX1 2HZ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena D","family":"Aflorei","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Arnaldi","sequence":"additional","affiliation":[{"name":"Section of Endocrinology, PROMISE, University of Palermo , Palermo 90127 ,","place":["Italy"]},{"name":"Unit\u00e0 Operativa Complessa of Endocrine Diseases, A.O.U.P. Paolo Giaccone of Palermo , Palermo 90127 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ APHM, INSERM, UMR1251 MMG, Laboratory of Molecular Biology GEnOP\u00e9, Biog\u00e9nop\u00f4le, H\u00f4pital de la Timone , Marseille 13385 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Beckers","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, University of Li\u00e8ge , Li\u00e8ge 4000 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana F","family":"Bizzi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Federal University of Minas Gerais , Belo Horizonte\/Minas Gerais, 30130-100 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Chanson","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes, Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service d\u2019Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares de l\u2019Hypophyse HYPO , Le Kremlin-Bic\u00eatre, 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Dal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Aalborg University Hospital , Aalborg 9000 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian F","family":"Daly","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Centre Hospitalier Universitaire de Li\u00e8ge, University of Li\u00e8ge , Li\u00e8ge 4000 ,","place":["Belgium"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary N","family":"Dang","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"David","sequence":"additional","affiliation":[{"name":"Centre for Bioinformatics, Department of Life Sciences, Imperial College London , London, SW7 2AZ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matheus de Oliveira","family":"Andrade","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]},{"name":"Faculty of Medicine, University of Brasilia , Brasilia 70910-900 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2262-0011","authenticated-orcid":false,"given":"Tobias","family":"Else","sequence":"additional","affiliation":[{"name":"MEND\/Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Health System , Ann Arbor, MI 48109 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0748-2300","authenticated-orcid":false,"given":"Marianne S","family":"Elston","sequence":"additional","affiliation":[{"name":"Waikato Clinical Campus, The University of Auckland , Hamilton 3216 ,","place":["New Zealand"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Evans","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Ferrau","sequence":"additional","affiliation":[{"name":"Department of Human Pathology of Adulthood and Childhood \u2018G. 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,","place":["Serbia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishnou","family":"Mourougavelou","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madalina","family":"Musat","sequence":"additional","affiliation":[{"name":"National Institute of Endocrinology, University of Medicine and Pharmacy Carol Davila Bucharest , Bucharest 050474 ,","place":["Romania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4065-4677","authenticated-orcid":false,"given":"Gianluca","family":"Occhi","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Padua , Padua 35128 ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Owens","sequence":"additional","affiliation":[{"name":"Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust , Exeter, EX2 5DW ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ionela","family":"Pascanu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, George Emil Palade University of Medicine Pharmacy Science and Technology of Targu Mures , Targu Mures 540139 ,","place":["Romania"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio V B","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Federal University of Minas Gerais , Belo Horizonte\/Minas Gerais 30130-100 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A","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Clinical and Biomedical Sciences, University of Exeter Medical School , Exeter, EX1 2HZ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura C","family":"Hern\u00e1ndez-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]},{"name":"Red de Apoyo a la Investigaci\u00f3n, Coordinaci\u00f3n de la Investigaci\u00f3n Cient\u00edfica, Universidad Nacional Aut\u00f3noma de M\u00e9xico e Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n , M\u00e9xico City 14080 ,","place":["Mexico"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rta","family":"Korbonits","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London , London, EC1M 6BQ ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,3,12]]},"reference":[{"issue":"2","key":"2025040212161254200_lvaf044-B1","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1210\/er.2012-1013","article-title":"Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene","volume":"34","author":"Beckers","year":"2013","journal-title":"Endocr Rev"},{"issue":"11","key":"2025040212161254200_lvaf044-B2","doi-asserted-by":"publisher","first-page":"E373","DOI":"10.1210\/jc.2009-2556","article-title":"Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study","volume":"95","author":"Daly","year":"2010","journal-title":"J Clin Endocrinol 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