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A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP. Buffet A, et al. Horm Metab Res. 2012 May;44(5):359-66. doi: 10.1055/s-0032-1304594. Epub 2012 Apr 19. Horm Metab Res. 2012. PMID: 22517557 Review.
The identification of 9 susceptibility genes for paraganglioma/pheochromocytoma between 2001 and 2010 has led to the development of routine genetic tests. ...During the past decade, the discoveries of new paraganglioma/pheochromocytoma susceptibility genes and the s …
The identification of 9 susceptibility genes for paraganglioma/pheochromocytoma between 2001 and 2010 has led to the development of r …
Current management of succinate dehydrogenase-deficient gastrointestinal stromal tumors.
Neppala P, Banerjee S, Fanta PT, Yerba M, Porras KA, Burgoyne AM, Sicklick JK. Neppala P, et al. Cancer Metastasis Rev. 2019 Sep;38(3):525-535. doi: 10.1007/s10555-019-09818-0. Cancer Metastasis Rev. 2019. PMID: 31773431 Free PMC article. Review.
SDH-deficient GISTs are clinically unique in that they generally affect younger patients and are associated with GIST-paraganglioma hereditary syndrome, also known as Carney-Stratakis Syndrome. ...However, further studies are warranted to improve our understanding o …
SDH-deficient GISTs are clinically unique in that they generally affect younger patients and are associated with GIST-paraganglioma …
Genetic testing by cancer site: urinary tract.
Chan-Smutko G. Chan-Smutko G. Cancer J. 2012 Jul-Aug;18(4):343-9. doi: 10.1097/PPO.0b013e31826246ac. Cancer J. 2012. PMID: 22846736 Review.
The roles of renal cell carcinoma (RCC) and urothelial cancers of the upper urinary tract are often overlooked as indicators for genetic risk assessment. The key features of 5 hereditary cancer susceptibility conditions involving an increased risk for RCC are discussed. vo …
The roles of renal cell carcinoma (RCC) and urothelial cancers of the upper urinary tract are often overlooked as indicators for genetic ris …
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network. Burnichon N, et al. J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19. J Clin Endocrinol Metab. 2009. PMID: 19454582
CONTEXT: Germline mutations in SDHx genes cause hereditary paraganglioma. OBJECTIVE: The aim of the study was to assess the indications for succinate dehydrogenase (SDH) genetic testing in a prospective study. ...Mutation carriers were younger and more frequently ha …
CONTEXT: Germline mutations in SDHx genes cause hereditary paraganglioma. OBJECTIVE: The aim of the study was to assess the in …