Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
作者： Christopher J Ricketts , Julia R Forman , Eleanor Rattenberry , Nicola Bradshaw , Fiona Lalloo
DOI: 10.1002/HUMU.21136
关键词:
摘要: Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to adrenal extraadrenal pheochromocytomas, head neck paragangliomas (HNPGL), other tumor types. We report risks in 358 patients with SDHB (n=295) SDHD (n=63) mutations. Risks of HNPGL pheochromocytoma mutation carriers were 29% 52%, respectively, at age 60 years 71% 29%, carriers. malignant renal tumors (14% 70 years) higher carriers; 55 different (including a novel recurrent exon 1 deletion) identified. No clear genotype-phenotype correlations detected for However, predicted result loss expression or truncated unstable protein associated significantly increased risk compared missense that not impair stability (most such cases had the common p.Pro81Leu mutation). Analysis largest cohort SDHB/D has enhanced estimates penetrance supports silicon structure prediction analysis functional assessment The differing effect on suggests mechanisms tumorigenesis SDH-associated pheochromocytoma.
manchester.ac.uk参考文章(63)
Stephan Niemann, Ulrich Müller, Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nature Genetics. ,vol. 26, pp. 268- 270 ,(2000) , 10.1038/81551
Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, Claudine Rieubland, Malvina Crespin, Valérie Nau, Philippe Khau Van Kien, Pierre Corvol, Pierre-François Plouin, Xavier Jeunemaitre, COMETE (COrtical and MEdullary Tumour) Network, Mutations in the SDHB Gene Are Associated with Extra-adrenal and/or Malignant Phaeochromocytomas Cancer Research. ,vol. 63, pp. 5615- 5621 ,(2003)
Eamonn R Maher, Steven C Clifford, Nancy Fernandes da Silva, Frances M Richards, Mark R Morris, Farida Latif, Malgorzata Zatyka, Kai-Uwe Eckardt, Michael S Wiesener, Richard S Houlston, Identification of Cyclin D1 and Other Novel Targets for the von Hippel-Lindau Tumor Suppressor Gene by Expression Array Analysis and Investigation of Cyclin D1 Genotype as a Modifier in von Hippel-Lindau Disease Cancer Research. ,vol. 62, pp. 3803- 3811 ,(2002)
Susan Kupka, Simone Braun, Nikolaus Blin, Peter Leistenschneider, Kathrin Riemann, Heide Schmid, Karl Sotlar, Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. Anticancer Research. ,vol. 25, pp. 2809- 2814 ,(2005)
Kai Ren Ong, Emma R. Woodward, Pip Killick, Caron Lim, Fiona Macdonald, Eamonn R. Maher, Genotype-phenotype correlations in von Hippel-Lindau disease. Human Mutation. ,vol. 28, pp. 143- 149 ,(2007) , 10.1002/HUMU.20385
Thomas Bourgeron, Pierre Rustin, Dominique Chretien, Mark Birch-Machin, Marie Bourgeois, Evani Viegas-Péquignot, Arnold Munnich, Agnès Rötig, Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency Nature Genetics. ,vol. 11, pp. 144- 149 ,(1995) , 10.1038/NG1095-144
RF Badenhop, JC Jansen, Paul Anthony Fagan, RSA Lord, ZG Wang, WJ Foster, PR Schofield, The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features Journal of Medical Genetics. ,vol. 41, pp. 1- 5 ,(2004) , 10.1136/JMG.2003.011551
Diana E Benn, Michael S Croxson, Kathy Tucker, Christopher P Bambach, Anne Louise Richardson, Leigh Delbridge, Peter T Pullan, Jeremy Hammond, Deborah J Marsh, Bruce G Robinson, Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas Oncogene. ,vol. 22, pp. 1358- 1364 ,(2003) , 10.1038/SJ.ONC.1206300
Ying Ni, Kevin M. Zbuk, Tammy Sadler, Attila Patocs, Glenn Lobo, Emily Edelman, Petra Platzer, Mohammed S. Orloff, Kristin A. Waite, Charis Eng, Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. American Journal of Human Genetics. ,vol. 83, pp. 261- 268 ,(2008) , 10.1016/J.AJHG.2008.07.011
Anne-Paule Gimenez-Roqueplo, Judith Favier, Pierre Rustin, Jean-Jacques Mourad, Pierre-François Plouin, Pierre Corvol, Agnès Rötig, Xavier Jeunemaitre, The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway American Journal of Human Genetics. ,vol. 69, pp. 1186- 1197 ,(2001) , 10.1086/324413