A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 7, 2013, Pages

  Rattenberry, Eleanor ^a,b   Vialard, Lindsey ^b   Yeung, Anna ^b   Bair, Hayley ^b   McKay, Kirsten ^b   Jafri, Mariam ^a   Canham, Natalie ^c   Cole, Trevor R ^b   Denes, Judit ^d   Hodgson, Shirley V ^e   Irving, Richard ^f   Izatt, Louise ^g   Korbonits, Márta ^d   Kumar, Ajith V ^h   Lalloo, Fiona ⁱ   Morrison, Patrick J ^j   Woodward, Emma R ^a,b   Macdonald, Fiona ^b   Wallis, Yvonne ^b   Maher, Eamonn R ^a,b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c NORTHWICK PARK HOSPITAL   (United Kingdom)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^e ST GEORGE S HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^g GUY S HOSPITAL   (United Kingdom)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^j QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MAX PROTEIN; PROTEIN RET; VON HIPPEL LINDAU PROTEIN;

ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MAX GENE; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROCESS OPTIMIZATION; PROSPECTIVE STUDY; RET GENE; SENSITIVITY ANALYSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS; SUCCINATE DEHYDROGENASE A GENE; SUCCINATE DEHYDROGENASE AF2 GENE; SUCCINATE DEHYDROGENASE B GENE; SUCCINATE DEHYDROGENASE C GENE; SUCCINATE DEHYDROGENASE D GENE; TMEM127 GENE; TUMOR GENE; VALIDATION PROCESS; VHL GENE;

ADRENAL GLAND NEOPLASMS; COHORT STUDIES; COST SAVINGS; COSTS AND COST ANALYSIS; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; GREAT BRITAIN; HEAD AND NECK NEOPLASMS; HEALTH CARE COSTS; HUMANS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PROSPECTIVE STUDIES; PROTEIN SUBUNITS; PROTO-ONCOGENE PROTEINS C-RET; SENSITIVITY AND SPECIFICITY; SUCCINATE DEHYDROGENASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 84879922796     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1319     Document Type: Article

References (29)

1. Erlic Z, Rybicki L, Peczkowska M, et al. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res. 2009;15:6378-6385.
2. Jafri M, Maher ER. The genetics of phaeochromocytoma: using clinical features to guide genetic testing. Eur J Endocrinol. 2012;166:151-158.
3. Gimenez-Roqueplo AP, Lehnert H, Mannelli M, et al. Phaeochromocytoma, new genes and screening strategies. Clin Endocrinol (Oxf). 2006;65:699-705. (Pubitemid 44773690)
4. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459-1466. (Pubitemid 34755714)
5. Gimenez-Roqueplo AP, Dahia PL, Robledo M. An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes. Horm Metab Res. 2012;44:328-333.
6. Bravo EL. Evolving concepts in the pathophysiology, diagnosis, and treatment of pheochromocytoma. Endocr Rev. 1994;15:356-368. (Pubitemid 24180793)
7. Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287:848-851. (Pubitemid 30084326)
8. Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet. 2001;69:49-54. (Pubitemid 32614017)
9. Astuti D, Douglas F, Lennard TW, et al. Germline SDHD mutation in familial phaeochromocytoma. Lancet. 2001;357:1181-1182. (Pubitemid 32378695)
10. Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43:663-667.
11. Burnichon N, Brière JJ, Libé R, et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet. 2010;19:3011-3020.
12. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000;26:268-270.
13. Bayley JP, Kunst HP, Cascon A, et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol. 2010;11:366-372.
14. Qin Y, Yao L, King EE, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010;42:229-233.
15. Karasek D, Frysak Z, Pacak K. Genetic testing for pheochromocytoma. Curr Hypertens Rep. 2010;12:456-464.
16. Neumann HP, Erlic Z, Boedeker CC, et al. Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res. 2009;69:3650-3656.
17. Jafri M, Whitworth J, Rattenberry E, et al. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma and paraganglioma and head and neck paraganglioma (HNPGL). Clin Endocrinol (Oxf). 2013;78:898-906.
18. Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev. 2011;32:177-195.
19. Morgan JE, Carr IM, Sheridan E, et al. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat. 2010;31:484-491.
20. O'Sullivan J, Mullaney BG, Bhaskar SS, et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet. 2012;49:322-326.
21. Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005;437:376-380. (Pubitemid 41613494)
22. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000;132:365-386.
23. de Leeneer K, De Schrijver J, Clement L, et al. Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics. PLoS One. 2011;6:e25531.
24. Bell JA, Bodmer D, Sistermans E, Ramsden SC. Practice guidelines for the interpretation and reporting of unclassified variants (UVs) in clinical molecular genetics. Clinical Molecular Genetics Society, October 22, 2007. http://www.cmgs.org/BPGs/pdfs%20current%20bpgs/UV%20GUIDELINES%20ratified.pdf. Published October 10, 2007. Accessed February 5, 2013.
25. Huse SM, Huber JA, Morrison HG, Sogin ML, Welch DM. Accuracy and quality of massively parallel DNA pyrosequencing. Genome Biol. 2007;8:R143.
26. Hollants S, Redeker EJ, Matthijs G. Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes. Clin Chem. 2012;58:717-724.
27. Michils G, Hollants S, Dehaspe L, et al. Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn. 2012;14:623-630.
28. Bonnal RJ, Severgnini M, Castaldi A, et al. Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing. Anal Biochem. 2010;406:176-184.
29. de Leeneer K, Hellemans J, De Schrijver J, et al. Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. Hum Mutat. 2011;32:335-344.