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• W2030203460 abstract "Human MutationVolume 31, Issue 6 p. 761-762 Letter to the EditorsFree Access Are we overestimating the penetrance of mutations in SDHB?† Francesca Schiavi, Francesca Schiavi Familial Cancer Clinic, Veneto Institute of Oncology, Padua, Italy Francesca Schiavi and Roger L. Milne are contributed equally to this work.Search for more papers by this authorRoger L. Milne, Roger L. Milne Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain Francesca Schiavi and Roger L. Milne are contributed equally to this work.Search for more papers by this authorEmma Anda, Emma Anda Department of Endocrinology, Hospital de Navarra, Pamplona, SpainSearch for more papers by this authorPilar Blay, Pilar Blay Medical Oncology Service, Hospital Central de Asturias, Oviedo, SpainSearch for more papers by this authorMaurizio Castellano, Maurizio Castellano Internal Medicine and Endocrinology Unit, Department of Medical and Surgical Sciences, University of Brescia, Brescia, ItalySearch for more papers by this authorGiuseppe Opocher, Giuseppe Opocher Familial Cancer Clinic, Veneto Institute of Oncology, Padua, Italy Department of Medical and Surgical Sciences, University of Padova, Padova, ItalySearch for more papers by this authorMercedes Robledo, Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), SpainSearch for more papers by this authorAlberto Cascón, Corresponding Author Alberto Cascón [email protected] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), SpainHereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, SpainSearch for more papers by this author Francesca Schiavi, Francesca Schiavi Familial Cancer Clinic, Veneto Institute of Oncology, Padua, Italy Francesca Schiavi and Roger L. Milne are contributed equally to this work.Search for more papers by this authorRoger L. Milne, Roger L. Milne Genetic and Molecular Epidemiology Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain Francesca Schiavi and Roger L. Milne are contributed equally to this work.Search for more papers by this authorEmma Anda, Emma Anda Department of Endocrinology, Hospital de Navarra, Pamplona, SpainSearch for more papers by this authorPilar Blay, Pilar Blay Medical Oncology Service, Hospital Central de Asturias, Oviedo, SpainSearch for more papers by this authorMaurizio Castellano, Maurizio Castellano Internal Medicine and Endocrinology Unit, Department of Medical and Surgical Sciences, University of Brescia, Brescia, ItalySearch for more papers by this authorGiuseppe Opocher, Giuseppe Opocher Familial Cancer Clinic, Veneto Institute of Oncology, Padua, Italy Department of Medical and Surgical Sciences, University of Padova, Padova, ItalySearch for more papers by this authorMercedes Robledo, Mercedes Robledo Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), SpainSearch for more papers by this authorAlberto Cascón, Corresponding Author Alberto Cascón [email protected] Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), SpainHereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Centro Nacional de Investigaciones Oncológicas, Melchor Fernández Almagro 3, 28029 Madrid, SpainSearch for more papers by this author First published: 10 May 2010 https://doi.org/10.1002/humu.21269Citations: 58 † Communicated by Richard Wooster AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, Pasini B, Radice P, Manoukian S, Eccles DM, Tang N, Olah E, Anton-Culver H, Warner E, Lubinski J, Gronwald J, Gorski B, Tulinius H, Thorlacius S, Eerola H, Nevanlinna H, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF. 2003. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72: 1117– 1130. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. 2006. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 91: 827– 836. Cascon A, Lopez-Jimenez E, Landa I, Leskela S, Leandro-Garcia LJ, Maliszewska A, Leton R, de la Vega L, Garcia-Barcina MJ, Sanabria C, Alvarez-Escola C, Rodriguez-Antona C, Robledo M. 2009a. Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. Horm Metab Res 41: 672– 675. Cascon A, Pita G, Burnichon N, Landa I, Lopez-Jimenez E, Montero-Conde C, Leskela S, Leandro-Garcia LJ, Leton R, Rodriguez-Antona C, Diaz JA, Lopez-Vidriero E, Gonzalez-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M. 2009b. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab 94: 1701– 1705. Lange K, Weeks D, Boehnke M. 1988. Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet Epidemiol 5: 471– 472. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C. 2004. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292: 943– 951. Ricketts C, Woodward ER, Killick P, Morris MR, Astuti D, Latif F, Maher ER. 2008. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst 100: 1260– 1262. Ricketts CJ, Forman JR, Rattenbury E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Ajith Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. 2010. Tumour risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 31: 41– 51. Solis DC, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. 2009. Penetrance and clinical consequences of a gross SDHB deletion in a large family. Clin Genet 75: 354– 363. Citing Literature Volume31, Issue6June 2010Pages 761-762 ReferencesRelatedInformation" @default.
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