Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 5, 2013, Pages

  Beristain, Elena ^a   Vicente, Maria Angeles ^b   Guerra, Isabel ^a   Gutiérrez Corres, Francisco Borja ^a   Garin, Intza ^a   De Nanclares, Guiomar Perez ^a  

^a HOSPITAL TXAGORRITXU   (Spain)

^b Lipid Clinic   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; DNA; GUANINE; TRYPTOPHAN; TUMOR MARKER;

ALLELE; ARTICLE; CARCINOGENESIS; CELL CYCLE REGULATION; CHROMOSOME 11; CONTROLLED STUDY; DNA METHYLATION; DNA SEQUENCE; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENOME IMPRINTING; GENOTYPE; GERM LINE; HAPLOTYPE; HETEROZYGOSITY LOSS; HETEROZYGOTE; HUMAN; INHERITANCE; KIDNEY TUMOR; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PATERNALISM; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROSTATE TUMOR; SDHD GENE; SEQUENCE ANALYSIS; UNIPARENTAL DISOMY;

ALLELES; CHROMOSOMES, HUMAN, PAIR 11; CODON, NONSENSE; DNA METHYLATION; DNA, NEOPLASM; FAMILY HEALTH; FEMALE; GENETIC MARKERS; HETEROZYGOTE; HUMANS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE REPEATS; MUTATION; PARAGANGLIOMA; PEDIGREE; SUCCINATE DEHYDROGENASE; UNIPARENTAL DISOMY;

EID: 84877694308     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-4083     Document Type: Article

References (20)

1. DeLellis R, Lloyd RV, Heitz Pu, Eng C. Pathology and genetics: tumours of endocrine organs. WHO classification of tumors. Lyon, France: IARC; 2004.
2. Fishbein L, Nathanson KL. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet. 2012;205:1-11.
3. Ricketts CJ, Forman JR, Rattenberry E, et al. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum. Mutat. 2010;31:41-51.
4. Morison IM, Ramsay JP, Spencer HG. A census of mammalian imprinting. Trends Genet. 2005;21:457-465.
5. Hensen EF, Jordanova ES, van Minderhout IJ, 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.
6. Devilee P, van Schothorst EM, Bardoel AF, et al. Allelotype of head and neck paragangliomas: allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL. Genes Chromosomes Cancer. 1994;11:71-78.
7. Baysal BE, Farr JE, Rubinstein WS, et al. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet. 1997;60:121-132.
8. 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.
9. Pigny P, Vincent A, Cardot BC, et al. Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. J Clin Endocrinol Metab. 2008;93:1609-1615.
10. Yeap PM, Tobias ES, Mavraki E, et al. Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. J Clin Endocrinol Metab. 2011;96:E2009-E2013.
11. Powell CA, Klares S, O'Connor G, Brody JS. Loss of heterozygosity in epithelial cells obtained by bronchial brushing: clinical utility in lung cancer. Clin Cancer Res. 1999;5:2025-2034.
12. Tuna M, Knuutila S, Mills GB. Uniparental disomy in cancer. Trends Mol Med. 2009;15:120-128.
13. Haruta M, Arai Y, Sugawara W, et al. Duplication of paternal IGF2 or loss of maternal IGF2 imprinting occurs in half of Wilms tumors with various structural WT1 abnormalities. Genes Chromosomes Cancer. 2008;47:712-727.
14. Kratz CP, Steinemann D, Niemeyer CM, et al. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. Hum Mol Genet. 2007;16:374-379.
15. Tycko B. Genomic imprinting: mechanism and role in human pathology. Am J Pathol. 1994;144:431-443.
16. Kikuchi T, Toyota M, Itoh F, et al. Inactivation of p57KIP2 by regional promoter hypermethylation and histone deacetylation in human tumors. Oncogene. 2002;21:2741-2749.
17. Pateras IS, Apostolopoulou K, Koutsami M, et al. Downregulation of the KIP family members p27(KIP1) and p57(KIP2) by SKP2 and the role of methylation in p57(KIP2) inactivation in nonsmall cell lung cancer. Int J Cancer. 2006;119:2546-2556.
18. Algar EM, Muscat A, Dagar V, et al. Imprinted CDKN1C is a tumor suppressor in rhabdoid tumor and activated by restoration of SMARCB1 and histone deacetylase inhibitors. PLoS One. 2009;4: e4482.
19. Steenman M, Westerveld A, Mannens M. Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. Genes Chromosomes Cancer. 2000;28:1-13.
20. Calton EA, Temple IK, Mackay DJ, et al. Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. Eur J Med Genet. 2013;56(2):114-117.