Absence of germline epimutation of the CDKN2A gene in familial melanoma

Journal of Investigative Dermatology

Volumn 129, Issue 3, 2009, Pages 781-784

  Van Doorn, Remco ^a   Zoutman, Willem H ^a   Gruis, Nelleke A ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA;

ADULT; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA ISOLATION; DNA METHYLATION; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC EPIGENESIS; GERM LINE; HUMAN; HUMAN CELL; LETTER; MALE; MELANOMA; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGED; CYCLIN-DEPENDENT KINASE INHIBITOR P16; EPIGENESIS, GENETIC; FAMILY HEALTH; FEMALE; GENES, P16; GERM-LINE MUTATION; HUMANS; MALE; MELANOMA; MIDDLE AGED; SKIN NEOPLASMS;

EID: 59949093983     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.287     Document Type: Letter

References (17)

1. Bishop JN, Harland M, Randerson-Moor J, Bishop DT (2007) Management of familial melanoma. Lancet Oncol 8:46-54
2. Chan TL, Yuen ST, Kong CK, Chan YW, Chan AS, Ng WF et al. (2006) Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 38:1178-83
3. de Snoo FA, Bergman W, Gruis NA (2003) Familial melanoma: a complex disorder leading to controversy on DNA testing. Fam Cancer 2:109-16
4. Furuta J, Nobeyama Y, Umebayashi Y, Otsuka F, Kikuchi K, Ushijima T (2006) Silencing of peroxiredoxin 2 and aberrant methylation of 33 CpG islands in putative promoter regions in human malignant melanomas. Cancer Res 66:6080-6
5. Goldstein AM, Chan M, Harland M, Gillanders EM, Hayward NK, Avril MF et al. (2006) High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66:9818-28
6. Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT et al. (2007) Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 44:99-106
7. Harland M, Taylor CF, Chambers PA, Kukalizch K, Randerson-Moor JA, Gruis NA et al. (2005) A mutation hotspot at the p14ARF splice site. Oncogene 24:4604-8
8. Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ et al. (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356:697-705
9. Martin DI, Ward R, Suter CM (2005) Germline epimutation: a basis for epigenetic disease in humans. Ann N Y Acad Sci 1054:68-77
10. Paul CL, Clark SJ (1996) Cytosine methylation: quantitation by automated genomic sequencing and GENESCAN analysis. Biotechniques 21:126-33
11. Sharpless E, Chin L (2003) The INK4a/ARF locus and melanoma. Oncogene 22:3092-8
12. Singh M, Lin J, Hocker TL, Tsao H (2008) Genetics of melanoma tumorigenesis. Br J Dermatol 158:15-21
13. Suter CM, Martin DI (2007) Inherited epimutation or a haplotypic basis for the propensity to silence? Nat Genet 39:573
14. Suter CM, Martin DI, Ward RL (2004) Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36:497-501
15. van Doorn R, Zoutman WH, Dijkman R, de Menezes RX, Commandeur S, Mulder AA et al. (2005) Epigenetic profiling of cutaneous T-cell lymphoma: promoter hypermethylation of multiple tumor suppressor genes including BCL7a, PTPRG, and p73. J Clin Oncol 23:3886-96
16. Worm J, Aggerholm A, Guldberg P (2001) In-tube DNA methylation profiling by fluorescence melting curve analysis. Clin Chem 47:1183-9
17. Zheng S, Chen P, McMillan A, Lafuente A, Lafuente MJ, Ballesta A et al. (2000) Correlations of partial and extensive methylation at the p14(ARF) locus with reduced mRNA expression in colorectal cancer cell lines and clinicopathological features in primary tumors. Carcinogenesis 21:2057-64