Genomic imprinting and environment in hereditary paraganglioma

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 129 C, Issue 1, 2004, Pages 85-90

  Baysal, Bora E ^a  

^a UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Gene environment interaction; Genomic imprinting; Hypoxia; Oxygen sensing; Tumor predisposition

Indexed keywords

CANCER SUSCEPTIBILITY; DISEASE TRANSMISSION; ENVIRONMENTAL FACTOR; GENE; GENE MUTATION; GENETIC DISORDER; GENOME IMPRINTING; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; PARAGANGLIOMA; PENETRANCE; PHENOTYPIC VARIATION; POPULATION GENETICS; PRIORITY JOURNAL; PROGENY; REVIEW; SDHD GENE; TUMOR VASCULARIZATION;

EID: 3342943223     PISSN: 15524868     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.c.30018     Document Type: Review

References (48)

1. Arias-Stella J, Valcarcel J. 1976. Chief cell hyperplasia, in the human carotid body at high altitudes; physiologic and pathologic significance. Hum Pathol 7:361-373.
2. Arias-Stella J, Bustos F. 1976. Chronic hypoxia and chemodectomas in bovines at high altitudes. Arch Pathol Lab Med 100:636-639.
3. Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE. 2003. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet 113:228-237.
4. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER. 2001. Gene mutations in the succinate dehydrogenase subunit sdhb cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69:49-54.
5. Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR. 2001. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosomes Cancer 31:255-263.
6. Baysal BE. 2002. Hereditary paraganglioma targets diverse paraganglia. J Med Genet 39:617-622.
7. Baysal BE, Farr JE, Rubinstein WS, Galus RA, Johnson KA, Aston CE, Myers EN, Johnson JT, Carrau R, Kirkpatrick SJ, Myssiorek D, Singh D, Saha S, Gollin SM, Evans GA, James MR, Richard CW III. 1997. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet 60:121-132.
8. Baysal BE, van Schothorst EM, Farr JE, Grashof P, Myssiorek D, Rubinstein WS, Taschner P, Cornelisse CJ, Devlin B, Devilee P, Richard CW. 1999. Repositioning the hereditary paraganglioma critical region on chromosome band 11q23. Hum Genet 104:219-225.
9. Baysal BE, Ferrell RE, Wilett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PEM, Rubinstein WS, Myers EN, Richard CW III, Cornelisse CJ, Devilee P, Devlin B. 2000. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851.
10. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH III, Myers EN, Ferrell RE, Rubinstein WS. 2002. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39:178-183.
11. Baysal BE, Willett-Brozick JE, Filho PA, Laurence EC, Ferrell RE. An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. J Med Genet (in press).
12. Beechey CV, Cattanach BM. 1995. Genetic imprinting map. Mouse Genome 93:89-92.
13. Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge L, Pullan PT, Hammond J, Marsh DJ, Robinson BG. 2003. Novel succinate dehydrogenase subunit B [SDHB] mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene 22:1358-1364.
14. Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA. 2002. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94:894-903.
15. Cascon A, Ruiz-Llorente S, Cebrian A, Telleria D, Rivero JC, Diez JJ, Lopez-Ibarra PJ, Jaunsolo MA, Benitez J, Robledo M. 2002. Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. Eur J Hum Genet 10:457-461.
16. Dannenberg H, Dinjens WN, Abbou M, Van Urk H, Pauw BK, Mouwen D, Mooi WJ, de Krijger RR. 2002. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res 8:2061-2066.
17. Dipple KM, McCabe ER. 2000. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729-1735.
18. Drovdlic CM, Myers EN, Peters JA, Baysal BE, Brackmann DE, Slattery WH III, Rubinstein WS. 2001. Proportion of heritable PGL cases and associated clinical characteristics. Laryngoscope 1:1822-1827.
19. Feinberg AP. 2003. Genomic imprinting and cancer. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill. p 525-537.
20. Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Van Kien PK, Corvol P, Plouin PF, Jeunemaitre X. 2003. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 63:5615-5621.
21. Gonzalez C, Almaraz L, Obeso A, Rigual R. 1994. Carotid body chemoreceptors: from natural stimuli to sensory discharges. Physiol Rev 74:829-898.
22. Grufferman S, Gillman MW, Pasternak LR, Peterson CL, Young WG Jr. 1980. Familial carotid body tumors: case report and epidemiologic review. Cancer 46:2116-2122.
23. Heutink P, van der Mey AG, Sandkuijl LA, van Gils AP, Bardoel A, Breedveld GJ, van Vliet M, van Ommen GJ, Cornelisse CJ, Oostra BA, Weber JL, Devilee P. 1992. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1:7-10.
24. Heutink P, van der Mey AG, Bardoel A, Breedveld GJ, Pertijs J, Sandjuijl LA, van Ommen GJ, Cornelisse CJ, Oostra BA, Devilee P. 1994. Further localization of the gene for hereditary paragangliomas [PGL], and evidence for linkage in unrelated families. Eur J Hum Genet 2:148-158.
25. Lack EE. 1978. Hyperplasia of vagal and carotid body paraganglia in patients with chronic hypoxemia. Am J Pathol 91:497-516.
26. Lack EE. 1994. Anatomy and physiology of peripheral arterial chemoreceptors. In: Lack EE, editor. Pathology of adrenal and extraadrenal paraganglia. Philadelphia: W.B. Saunders Company. p 1-14.
27. Lack EE, Perez-Atayde AR, Young JB. 1985. Carotid body hyperplasia in cystic fibrosis and cyanotic heart disease. A combined morphometric, ultrastructural, and biochemical study. Am J Pathol 119:301-314.
28. Lancaster CRD, editor. 2002. Special issue on bioenergetics. Biochim Biophys Acta 1553:1-176.
29. Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. 1995. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet 95:56-62.
30. Milunsky J, Destefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A. 1997. Familial paragangliomas - linkage to chromosome 11q23 and clinical implications. Am J Med Genet 72:66-70.
31. Milunsky JM, Maher TA, Michels VV, Milunsky A. 2001. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100:311-314.
32. Narod SA, Dube MP, Klijn J, Lubinski J, Lynch HT, Ghadirian P, Provencher D, Heimdal K, Moller P, Robson M, Offit K, Isaacs C, Weber B, Friedman E, Gershoni-Baruch R, Rennert G, Pasini B, Wagner T, Daly M, Garber JE, Neuhausen SL, Ainsworth P, Olsson H, Evans G, Osborne M, Couch F, Foulkes WD, Warner E, Kim-Sing C, Olopade O, Tung N, Saal HM, Weitzel J, Merajver S, Gauthier-Villars M, Jernstrom H, Sun P, Brunet JS. 2002. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 94:1773-1779.
33. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C. 2002. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466.
34. Niemann S, Muller U. 2000. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270.
35. Niemann S, Muller U, Engelhardt D, Lohse P. 2003. Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. Hum Genet 113:92-94.
36. Oosterwijk JC, Jansen JC, van Schothorst EM, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, van der Mey AG. 1996. First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours [paragangliomas]. J Med Genet 33:379-383.
37. Pacheco-Ojeda L, Durango E, Rodriquez C, Vivar N. 1988. Carotid body tumors at high altitudes: Quito, Ecuador, 1987. World J Surg 12:856-860.
38. Parry DM, Li FP, Strong LC, Carney JA, Schottenfeld D, Reimer RR, Grufferman S. 1982. Carotid body tumors in humans: genetics and epidemiology. J Natl Cancer Inst 68:573-578.
39. Rodriguez-Cuevas S, Lopez-Garza J, Labastida-Almendaro S. 1998. Carotid body tumors in inhabitants of altitudes higher than 2000. meters above sea level. Head Neck 20:374-378.
40. Ruttledge MH, Andermann AA, Phelan CM, Claudio JO, Han FY, Chretien N, Rangaratnam S, MacCollin M, Short P, Parry D, Michels V, Riccardi VM, Weksberg R, Kitamura K, Bradburn JM, Hall BD, Propping P, Rouleau GA. 1996. Type of mutation in the neurofibromatosis type 2 gene [NF2] frequently determines severity of disease. Am J Hum Genet 59:331-342.
41. Saldana MJ, Salem LE, Travezan R. 1973. High altitude hypoxia and chemodectomas. Hum Pathol 4:251-263.
42. Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P. 2001. Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 31:274-281.
43. Tilghman SM. 1999. The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96:185-193.
44. Van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH, van de Kamp JJ. 1989. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet 2:1291-1294.
45. Van Schothorst EM, Jansen JC, Bardoel AFJ, Vandermey AGL, James MJ, Sobol H, Weissenbach J, Vanommen GJB, Cornelisse CJ, Devilee P. 1996. Confinement of pgl, an imprinted gene causing hereditary paragangliomas, to a 2-cm interval on 11q22-q23 and exclusion of drd2 and ncam as candidate genes. Eur J Hum Genet 4:267-273.
46. West JB. 1996. Prediction of barometric pressures at high altitude with the use of model atmospheres. J Appl Physiol 81:1850-1854.
47. Young AL, Baysal BE, Deb A, Young WF Jr. 2002. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocrinol Metab 87:4101-4105.
48. Zlotogora J, Bach G. 2003. The possibility of a selection process in the Ashkenazi Jewish population. Am J Hum Genet 73:438-440 [author reply 440-441].