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Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.
Couvé S, Ladroue C, Laine E, Mahtouk K, Guégan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pagès JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B. Couvé S, et al. Cancer Res. 2014 Nov 15;74(22):6554-64. doi: 10.1158/0008-5472.CAN-14-1161. Epub 2014 Nov 4. Cancer Res. 2014. PMID: 25371412 Free PMC article.
Genetic testing in pheochromocytoma or functional paraganglioma.
Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressac-de Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP. Amar L, et al. J Clin Oncol. 2005 Dec 1;23(34):8812-8. doi: 10.1200/JCO.2005.03.1484. J Clin Oncol. 2005. PMID: 16314641
Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers.
Gaujoux S, Pinson S, Gimenez-Roqueplo AP, Amar L, Ragazzon B, Launay P, Meatchi T, Libé R, Bertagna X, Audebourg A, Zucman-Rossi J, Tissier F, Bertherat J. Gaujoux S, et al. Clin Cancer Res. 2010 Nov 1;16(21):5133-41. doi: 10.1158/1078-0432.CCR-10-1497. Epub 2010 Oct 26. Clin Cancer Res. 2010. PMID: 20978149
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
Ladroue C, Hoogewijs D, Gad S, Carcenac R, Storti F, Barrois M, Gimenez-Roqueplo AP, Leporrier M, Casadevall N, Hermine O, Kiladjian JJ, Baruchel A, Fakhoury F, Bressac-de Paillerets B, Feunteun J, Mazure N, Pouysségur J, Wenger RH, Richard S, Gardie B. Ladroue C, et al. Haematologica. 2012 Jan;97(1):9-14. doi: 10.3324/haematol.2011.044644. Epub 2011 Sep 20. Haematologica. 2012. PMID: 21933857 Free PMC article.
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, Inglada-Pérez L, de Cubas AA, Amar L, Barontini M, de Quirós SB, Bertherat J, Bignon YJ, Blok MJ, Bobisse S, Borrego S, Castellano M, Chanson P, Chiara MD, Corssmit EP, Giacchè M, de Krijger RR, Ercolino T, Girerd X, Gómez-García EB, Gómez-Graña A, Guilhem I, Hes FJ, Honrado E, Korpershoek E, Lenders JW, Letón R, Mensenkamp AR, Merlo A, Mori L, Murat A, Pierre P, Plouin PF, Prodanov T, Quesada-Charneco M, Qin N, Rapizzi E, Raymond V, Reisch N, Roncador G, Ruiz-Ferrer M, Schillo F, Stegmann AP, Suarez C, Taschin E, Timmers HJ, Tops CM, Urioste M, Beuschlein F, Pacak K, Mannelli M, Dahia PL, Opocher G, Eisenhofer G, Gimenez-Roqueplo AP, Robledo M. Burnichon N, et al. Clin Cancer Res. 2012 May 15;18(10):2828-37. doi: 10.1158/1078-0432.CCR-12-0160. Epub 2012 Mar 27. Clin Cancer Res. 2012. PMID: 22452945
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A, Smati S, Mansuy L, Ménara M, Lebras M, Heymann MF, Simian C, Favier J, Murat A, Cariou B, Gimenez-Roqueplo AP. Buffet A, et al. J Clin Endocrinol Metab. 2014 Feb;99(2):E369-73. doi: 10.1210/jc.2013-2600. Epub 2013 Nov 25. J Clin Endocrinol Metab. 2014. PMID: 24276449
A germline mutation in PBRM1 predisposes to renal cell carcinoma.
Benusiglio PR, Couvé S, Gilbert-Dussardier B, Deveaux S, Le Jeune H, Da Costa M, Fromont G, Memeteau F, Yacoub M, Coupier I, Leroux D, Méjean A, Escudier B, Giraud S, Gimenez-Roqueplo AP, Blondel C, Frouin E, Teh BT, Ferlicot S, Bressac-de Paillerets B, Richard S, Gad S. Benusiglio PR, et al. J Med Genet. 2015 Jun;52(6):426-30. doi: 10.1136/jmedgenet-2014-102912. Epub 2015 Apr 24. J Med Genet. 2015. PMID: 25911086
In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.
Lussey-Lepoutre C, Bellucci A, Morin A, Buffet A, Amar L, Janin M, Ottolenghi C, Zinzindohoué F, Autret G, Burnichon N, Robidel E, Banting B, Fontaine S, Cuenod CA, Benit P, Rustin P, Halimi P, Fournier L, Gimenez-Roqueplo AP, Favier J, Tavitian B. Lussey-Lepoutre C, et al. Clin Cancer Res. 2016 Mar 1;22(5):1120-9. doi: 10.1158/1078-0432.CCR-15-1576. Epub 2015 Oct 21. Clin Cancer Res. 2016. PMID: 26490314 Free article.
248 results