Genetic testing in pheochromocytoma or functional paraganglioma.

By L. Amar, J. Bertherat, E. Baudin, C. Ajzenberg, B. Bressac-de Paillerets, O. Chabre, B. Chamontin, B. Delemer, S. Giraud, A. Murat and 10 more. Journal of Clinical Oncology, 2005

664 citations recorded by the source corpus.

Subfields: Endocrinology, Diabetes and Metabolism, Surgery

View Paper: https://www.semanticscholar.org/paper/d3719a2b7f381ed2846a36425624d45e05ce653c

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In Endocrinology, Diabetes and Metabolism

1. A. Gimenez-Roqueplo
2. Karel Pacak
3. Graeme Eisenhofer

In Surgery

1. A. Gimenez-Roqueplo
2. Karel Pacak
3. Graeme Eisenhofer

Citations in the corpus

• Comprehensive molecular characterization of pheochromocytoma and paraganglioma (2017, background): “Markers of metastatic disease are limited, including germline SDHB mutations, extra-adrenal location, tumor size, and elevated plasma methoxytyramine levels (Amar et al., 2005; Ayala-Ramirez et al., 2011; Eisenhofer et al., 2012).”
• SDH mutations establish a hypermethylator phenotype in paraganglioma. (2013, background): “DNA Hypermethylation and Associated Gene Silencing Are Stronger in SDHB-Mutated Tumors SDHB-mutated PGL/PCC tend to be more malignant than tumors harboring mutations in other SDH subunits (Amar et al., 2005; Pasini and Stratakis, 2009).”
• Pheochromocytoma: recommendations for clinical practice from the First International Symposium (2007, background): “0% of tumors without an obvious syndrome or family history result from otherwise unsuspected germ-line mutations in one of these four genes ( Table 1 )”
• SDHA is a tumor suppressor gene causing paraganglioma. (2010, methodology): “Control RNAs were extracted from fibroblast cultures from healthy control individuals and from pheochromocytoma tumor tissue of patients collected by the COMETE network (1).”