Reassessing the role of the p.(Arg304Gln) missense <i>AIP</i> variant in pituitary tumorigenesis
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.
Authors
- Jakob Dal (ORCID: https://orcid.org/0000-0001-7941-6882)
- Bernard Chong Eu Khoo (ORCID: https://orcid.org/0000-0002-4223-9736)
- Tobias Else (ORCID: https://orcid.org/0000-0002-2262-0011)
- Mariana Bizzi (ORCID: https://orcid.org/0000-0002-9190-1984)
- Christof Schöfl
- Antônio Ribeiro‐Oliveira (ORCID: https://orcid.org/0000-0002-6114-5786)
- Márta Korbonits (ORCID: https://orcid.org/0000-0002-4101-9432)
- Paul Benjamin Loughrey (ORCID: https://orcid.org/0000-0002-5491-6730)
- Matheus de Oliveira Andrade (ORCID: https://orcid.org/0000-0001-8922-2715)
- Anne Barlier (ORCID: https://orcid.org/0000-0002-3740-6173)
- Mark D. Ludman (ORCID: https://orcid.org/0000-0002-9658-6784)
- Louise Metherell (ORCID: https://orcid.org/0000-0002-0530-3524)
- Gianluca Occhi (ORCID: https://orcid.org/0000-0003-4065-4677)
- Daniel Flanagan (ORCID: https://orcid.org/0000-0002-1833-1276)
- Philippe Chanson (ORCID: https://orcid.org/0000-0001-5096-5722)
- Giorgio Arnaldi (ORCID: https://orcid.org/0000-0002-6204-3423)
- Marianne S. Elston (ORCID: https://orcid.org/0000-0002-0748-2300)
- Serban Radian (ORCID: https://orcid.org/0000-0002-6488-4242)
- Mary Dang (ORCID: https://orcid.org/0000-0002-6511-635X)
- Sérgio Veloso Brant Pinheiro (ORCID: https://orcid.org/0000-0002-2164-2374)
- Simona Fica (ORCID: https://orcid.org/0000-0002-9676-7497)
- Francesco Ferraù (ORCID: https://orcid.org/0000-0002-7472-6598)
- Mônica R. Gadelha (ORCID: https://orcid.org/0000-0002-9250-3558)
- Nadira B Mothojakan
- Ionela Pașcanu (ORCID: https://orcid.org/0000-0003-0679-1379)
- Donato Iacovazzo (ORCID: https://orcid.org/0000-0003-3282-4437)
- Alessia David (ORCID: https://orcid.org/0000-0001-9449-1303)
- Elena Daniela Aflorei (ORCID: https://orcid.org/0000-0002-7105-591X)
- Laura C. Hernández‐Ramírez (ORCID: https://orcid.org/0000-0002-6599-6406)
- Sonal Kapur (ORCID: https://orcid.org/0000-0002-6630-2218)
- Ajith Kumar (ORCID: https://orcid.org/0000-0003-3878-2856)
- Albert Beckers (ORCID: https://orcid.org/0000-0001-6351-1367)
- Ronald M. Lechan (ORCID: https://orcid.org/0000-0003-0404-2323)
- Martina Owens (ORCID: https://orcid.org/0000-0002-2081-0188)
- Kashyap Patel (ORCID: https://orcid.org/0000-0002-9240-8104)
- Adrian Daly (ORCID: https://orcid.org/0000-0001-6130-2975)
- Ankit M Arni (ORCID: https://orcid.org/0009-0005-0365-9235)
- Chandan Kumar‐Sinha (ORCID: https://orcid.org/0000-0002-8696-3400)
- Dragana Miljić (ORCID: https://orcid.org/0000-0002-3994-4012)
- Amy Evans (ORCID: https://orcid.org/0000-0002-6664-9342)
- Mädälina Muşat
- Vishnou Mourougavelou
Institutions
- Universidade Federal de Minas Gerais (BR)
- University of Messina (IT)
- Universidade Federal do Rio de Janeiro (BR)
- Queen's University Belfast (GB)
- Tufts Medical Center (US)
- University of Padua (IT)
- Universidade de Brasília (BR)
- University of Auckland (NZ)
- Inserm (FR)
- Carol Davila University of Medicine and Pharmacy (RO)
- Queen Mary University of London (GB)
- Aix-Marseille Université (FR)
- University of Exeter (GB)
- Université Paris-Saclay (FR)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Aalborg University Hospital (DK)
- Great Ormond Street Hospital (GB)
- The Royal Free Hospital (GB)
- Meir Medical Center (IL)
- Universitatea de Medicină, Farmacie, Științe și Tehnologie „George Emil Palade” din Târgu Mureș (RO)
- University of Belgrade (RS)
- Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (MX)
- Emergency University (US)
- Bamberg County Hospital (US)
- Michigan Medicine (US)
- Michigan Center for Translational Pathology (US)
- Clinical Trials New Zealand (NZ)
- NIHR Exeter Clinical Research Facility (GB)
- University Clinical Centre (PL)
- Centre Hospitalier Universitaire de Liège (BE)
- University of Palermo (AR)
- Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone" di Palermo (IT)
- Sozialstiftung Bamberg (DE)
- Hôpital de la Timone (FR)
- Bicêtre Hospital (FR)
- University Hospitals Plymouth NHS Trust (GB)
- University College London (GB)
- Imperial College London (GB)
- University of Waikato (NZ)
- Universidade Federal do Estado do Rio de Janeiro (BR)
- Aalborg University (DK)
- University of Bamberg (DE)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-03-12
- DOI
- https://doi.org/10.1093/ejendo/lvaf044
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- New York State Department of Health
- University of Michigan
- Wellcome Trust
- Barts Charity
- National Institute for Health and Care Research
- Rosetrees Trust
- Public Health Agency
- Medical Research Centre
- Pfizer UK
- Medical Research Council