SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

The Lancet Oncology

Volumn 11, Issue 4, 2010, Pages 366-372

  Bayley, Jean Pierre ^a   Kunst, Henricus P M ^b   Cascon, Alberto ^c   Sampietro, Maria Lourdes ^a   Gaal, José ^d   Korpershoek, Esther ^d   Hinojar Gutierrez, Adolfo ^e   Timmers, Henri J L M ^b   Hoefsloot, Lies H ^b   Hermsen, Mario A ^f   Suárez, Carlos ^f   Hussain, A Karim ^a   Vriends, Annette H J T ^a   Hes, Frederik J ^a   Jansen, Jeroen C ^a   Tops, Carli M ^a   Corssmit, Eleonora P ^a   de Knijff, Peter ^a   Lenders, Jacques W M ^b,g   Cremers, Cor W R J ^b   Devilee, Peter ^a   Dinjens, Winand N M ^d   de Krijger, Ronald R ^d   Robledo, Mercedes ^c   more..

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Centro Nacional de Investigaciones Oncológicas   (Spain)

^d JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^e HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^f HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^g UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 2; SUCCINATE DEHYDROGENASE COMPLEX II SUBUNIT B; SUCCINATE DEHYDROGENASE COMPLEX II SUBUNIT C; SUCCINATE DEHYDROGENASE COMPLEX II SUBUNIT D; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENETIC ASSOCIATION; HAPLOTYPE; HEAD AND NECK CANCER; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NETHERLANDS; PARAGANGLIOMA; PEDIGREE ANALYSIS; PHEOCHROMOCYTOMA; POINT MUTATION; PRIORITY JOURNAL; SOMATIC MUTATION; SPAIN;

AGE OF ONSET; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX II; GENETIC TESTING; HEAD AND NECK NEOPLASMS; HETEROZYGOTE DETECTION; HUMANS; MUTATION; NETHERLANDS; PARAGANGLIOMA; PEDIGREE; PHEOCHROMOCYTOMA; PROTEIN SUBUNITS; SPAIN; SUCCINATE DEHYDROGENASE;

EID: 77950342008     PISSN: 14702045     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1470-2045(10)70007-3     Document Type: Article

References (26)

1. Burnichon N, Rohmer V, Amar L, et al. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 2009, 94:2817-2827.
2. 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.
3. 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.
4. Tomlinson IPM, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002, 30:406-410.
5. Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009, 360:765-773.
6. Hao HX, Khalimonchuk O, Schraders M, et al. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009, 325:1139-1142.
7. Cascón A, Montero-Conde C, Ruiz-Llorente S, et al. Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?. Genes Chromosomes Cancer 2006, 45:213-219.
8. van Baars FM, van den Broek P, Cremers C, Veldman J Familial non-chromaffinic paragangliomas (glomus tumors): clinical aspects. Laryngoscope 1981, 91:988-996.
9. Mariman EC, van Beersum SE, Cremers CW, van Baars FM, Ropers HH Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Hum Genet 1993, 91:357-361.
10. Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet 1995, 95:56-62.
11. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
12. Barrett JC, Fry B, Maller J, Daly MJ Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
13. Scheet P, Stephens M A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet 2006, 78:629-644.
14. Bayley JP, Grimbergen AE, van Bunderen PA, et al. The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. BMC Med Genet 2009, 10:34.
15. van Nederveen FH, Korpershoek E, Lenders JW, de Krijger RR, Dinjens WN Somatic SDHB mutation in an extraadrenal pheochromocytoma. N Engl J Med 2007, 357:306-308.
16. Gimm O, Armanios M, Dziema H, Neumann HP, Eng C Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000, 60:6822-6825.
17. Ng PC, Henikoff S SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003, 31:3812-3814.
18. Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P Prediction of deleterious human alleles. Hum Mol Genet 2001, 10:591-597.
19. Li JZ, Absher DM, Tang H, et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 2008, 319:1100-1104.
20. Bayley JP, Devilee P, Taschner PE The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 2005, 6:39.
21. 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.
22. Mannelli M, Ercolino T, Giache V, Simi L, Cirami C, Parenti G Genetic screening for pheochromocytoma: should SDHC gene analysis be included?. J Med Genet 2007, 44:586-587.
23. Peczkowska M, Cascon A, Prejbisz A, et al. Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab 2008, 4:111-115.
24. Bourgeron T, Rustin P, Chretien D, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995, 11:144-149.
25. Van Der Mey AGL, Maaswinkel-Mooy PD, Cornelisse CT, Schmidt PH, Van De Kamp JJP Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 1989, 2:1291-1294.
26. Hensen EF, Jordanova ES, van Minderhout IJHM, et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 2004, 23:4076-4083.