Spada A, Mantovani G, Lania AG, Treppiedi D, Mangili F, Catalano R, Carosi G, Sala E, Peverelli E (2022) Pituitary tumors: genetic and molecular factors underlying pathogenesis and clinical behavior. Neuroendocrinology 112(1):15–33. https://doi.org/10.1159/000514862
Article CAS PubMed Google Scholar
Chang M, Yang C, Bao X, Wang R (2020) Genetic and epigenetic causes of pituitary adenomas. Front Endocrinol 11:596554. https://doi.org/10.3389/fendo.2020.596554
Coopmans EC, Korbonits M (2022) Molecular genetic testing in the management of pituitary disease. Clin Endocrinol 97(4):424–435. https://doi.org/10.1111/cen.14706
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA (2006) Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science (New York) 312(5777):1228–1230. https://doi.org/10.1126/science.1126100
Ozfirat Z, Korbonits M (2010) AIP gene and familial isolated pituitary adenomas. Mol Cell Endocrinol 326(1–2):71–79. https://doi.org/10.1016/j.mce.2010.05.001
Article CAS PubMed Google Scholar
Hernandez-Ramirez LC, Trivellin G, Stratakis CA (2017) Role of phosphodiesterases on the function of aryl hydrocarbon receptor-interacting protein (AIP) in the pituitary gland and on the evaluation of AIP gene variants. Hormone Metab Res Hormon- und Stoffwechselforschung = Hormones et metabolisme 49(4):286–295. https://doi.org/10.1055/s-0043-104700
Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, Gadelha MR, Monson JP, Akker SA, Davis JR, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA, Grossman AB, Korbonits M (2008) The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. J Clin Endocrinol Metab 93(6):2390–2401. https://doi.org/10.1210/jc.2007-2611
Article CAS PubMed Google Scholar
Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN (2017) The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136(6):665–677. https://doi.org/10.1007/s00439-017-1779-6
Article CAS PubMed PubMed Central Google Scholar
Denes J, Korbonits M (2021) The clinical aspects of pituitary tumour genetics. Endocrine 71(3):663–674. https://doi.org/10.1007/s12020-021-02633-0
Article CAS PubMed PubMed Central Google Scholar
Marques P, Caimari F, Hernandez-Ramirez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M, Consortium F (2020) Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors. J Clin Endocrinol Metab 105(6):e2247–2260. https://doi.org/10.1210/clinem/dgaa040
Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P (2012) Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab 97(4):E663-670. https://doi.org/10.1210/jc.2011-2291
Article CAS PubMed Google Scholar
Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montanana CF, Hana V, Halaby G, Delemer B, Aizpun JI, Sonnet E, Longas AF, Hagelstein MT, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A (2011) High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol 165(4):509–515. https://doi.org/10.1530/EJE-11-0304
Article CAS PubMed Google Scholar
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16(3):1215. https://doi.org/10.1093/nar/16.3.1215
Article CAS PubMed PubMed Central Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O’Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581(7809):434–443. https://doi.org/10.1038/s41586-020-2308-7
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee ALQA (2015) 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. Genet Med J Am Coll Med Genet 17(5):405–424. https://doi.org/10.1038/gim.2015.30
Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, Massouras A (2019) VarSome: the human genomic variant search engine. Bioinformatics (Oxford) 35(11):1978–1980. https://doi.org/10.1093/bioinformatics/bty897
den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 37(6):564–569. https://doi.org/10.1002/humu.22981
Araujo PB, Kasuki L, de Azeredo Lima CH, Ogino L, Camacho AHS, Chimelli L, Korbonits M, Gadelha MR (2017) AIP mutations in Brazilian patients with sporadic pituitary adenomas: a single-center evaluation. Endocr Connect 6(8):914–925. https://doi.org/10.1530/EC-17-0237
Article CAS PubMed PubMed Central Google Scholar
De Sousa SMC, McCabe MJ, Wu K, Roscioli T, Gayevskiy V, Brook K, Rawlings L, Scott HS, Thompson TJ, Earls P, Gill AJ, Cowley MJ, Dinger ME, McCormack AI (2017) Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. Eur J Endocrinol 176(5):635–644. https://doi.org/10.1530/EJE-16-0944
Karaca Z, Taheri S, Tanriverdi F, Unluhizarci K, Kelestimur F (2015) Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant? Pituitary 18(6):831–837. https://doi.org/10.1007/s11102-015-0659-0
Article CAS PubMed Google Scholar
Ramirez-Renteria C, Hernandez-Ramirez LC, Portocarrero-Ortiz L, Vargas G, Melgar V, Espinosa E, Espinosa-de-Los-Monteros AL, Sosa E, Gonzalez B, Zuniga S, Unterlander M, Burger J, Stals K, Bussell AM, Ellard S, Dang M, Iacovazzo D, Kapur S, Gabrovska P, Radian S, Roncaroli F, Korbonits M, Mercado M (2016) AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine 53(2):402–411. https://doi.org/10.1007/s12020-016-0930-9
Article CAS PubMed Google Scholar
Martinez de LaPiscina I, Portillo Najera N, Rica I, Gaztambide S, Webb SM, Santos A, Moure MD, Paja Fano M, Hernandez MI, Chueca-Guindelain MJ, Hernandez-Ramirez LC, Soto A, Valdes N, Castano L (2021) Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas. Eur J Endocrinol 185(4):485–496. https://doi.org/10.1530/EJE-21-0075
Article CAS PubMed Google Scholar
Preda V, Korbonits M, Cudlip S, Karavitaki N, Grossman AB (2014) Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort. Eur J Endocrinol 171(5):659–666. https://doi.org/10.1530/EJE-14-0426
Article CAS PubMed Google Scholar
Schofl C, Honegger J, Droste M, Grussendorf M, Finke R, Plockinger U, Berg C, Willenberg HS, Lammert A, Klingmuller D, Jaursch-Hancke C, Tonjes A, Schneidewind S, Flitsch J, Bullmann C, Dimopoulou C, Stalla G, Mayr B, Hoeppner W, Schopohl J (2014) Frequency of AIP gene mutations in young patients with acromegaly: a registry-based study. J Clin Endocrinol Metab 99(12):E2789-2793. https://doi.org/10.1210/jc.2014-2094
Article CAS PubMed Google Scholar
Trofimiuk-Muldner M, Domagala B, Sokolowski G, Skalniak A, Hubalewska-Dydejczyk A (2023) AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas. Front Endocrinol 14:1098367. https://doi.org/10.3389/fendo.2023.1098367
Caimari F, Hernandez-Ramirez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M, International FC (2018) Risk category system to identify pituitary adenoma patients with AIP mutations. J Med Genet 55(4):254–260. https://doi.org/10.1136/jmedgenet-2017-104957
Burke W, Parens E, Chung WK, Berger SM, Appelbaum PS (2022) The challenge of genetic variants of uncertain clinical significance: a narrative review. Ann Intern Med 175(7):994–1000. https://doi.org/10.7326/M21-4109
Daly AF, Rostomyan L, Betea D, Bonneville JF, Villa C, Pellegata NS, Waser B, Reubi JC, Waeber Stephan C, Christ E, Beckers A (2019) AIP-mutated acromegaly resistant to first-generation somatostatin analogs: long-term control with pasireotide LAR in two patients. Endocr Connect 8(4):367–377. https://doi.org/10.1530/EC-19-0004
Article CAS PubMed PubMed Central Google Scholar
Karousis ED, Muhlemann O (2022) The broader sense of nonsense. Trends Biochem Sci 47(11):921–935. https://doi.org/10.1016/j.tibs.2022.06.003
Article CAS PubMed Google Scholar
Trivellin G, Korbonits M (2011) AIP and its interacting partners. J Endocrinol 210(2):137–155. https://doi.org/10.1530/JOE-11-0054
Article CAS PubMed Google Scholar
Hernandez-Ramirez LC, Gabrovska P, Denes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M, International FC (2015) Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in AIP mutation carriers. J Clin Endocrinol Metab 100(9):E1242–E1254. https://doi.org/10.1210/jc.2015-1869
Georgitsi M, Heliovaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavo S, Gundogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA (2008) Large genomic deletions in AIP in pituitary adenoma predisposition. J Clin Endocrinol Metab 93(10):4146–4151. https://doi.org/10.1210/jc.2008-1003
Article CAS PubMed Google Scholar
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M, International FC (2010) Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat 31(8):950–960. https://doi.org/10.1002/humu.21292
Cuny T, Pertuit M, Sahnoun-Fathallah M, Daly A, Occhi G, Odou MF, Tabarin A, Nunes ML, Delemer B, Rohmer V, Desailloud R, Kerlan V, Chabre O, Sadoul JL, Cogne M, Caron P, Cortet-Rudelli C, Lienhardt A, Raingeard I, Guedj AM, Brue T, Beckers A, Weryha G, Enjalbert A, Barlier A (2013) Genetic analysis in young patients with sporadic pituitary macroadenomas: besides AIP don’t forget MEN1 genetic analysis. Eur J Endocrinol 168(4):533–541. https://doi.org/10.1530/EJE-12-0763
Article CAS PubMed Google Scholar
Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia
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