Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma

Molecular Medicine Reports

Volumn 1, Issue 1, 2008, Pages 89-91

  Erlandson, Anna ^a   Appelqvist, Frida ^a   Enerbäck, Charlotta ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

CDKN2A; Malignant melanoma; Swedish families

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; EPIGENETICS; GENE FREQUENCY; GENE MUTATION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; MELANOMA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POPULATION RESEARCH; PROMOTER REGION; SWEDEN;

EID: 69249119939     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Erlandson A, Appelqvist F, Wennberg AM, Holm J and Enerbäck C: Novel CDKN2A mutations detected in western Swedish families with hereditary malignant melanoma. J Invest Dermatol 127: 1465-1467, 2007. (Pubitemid 46762979)
2. Hashemi J, Bendahl PO, Sandberg T, et al: Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families. Genes Chromosomes Cancer 31: 107-116, 2001. (Pubitemid 32411036)
3. Chan TL, Yuen ST, Kong CK, et al: Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet 38: 1178-1183, 2006. (Pubitemid 44470364)
4. Hitchins MP, Wong JJ, Suthers G, Suter CM, Martin DI, Hawkins NJ and Ward RL: Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med 356: 697-705, 2007. (Pubitemid 46257232)
5. Herman JG, Graff JR, Myöhänen S, Nelkin BD and Baylin SB: Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 93: 9821-9826, 1996. (Pubitemid 26296693)
6. Esteller M, Tortola S, Toyota M, Capella G, Peinado MA, Baylin SB and Herman JG: Hypermethylation-associated inactivation of p14(ARF) is independent of p16(INK4a) methylation and p53 mutational status. Cancer Res 60: 129-133, 2000. (Pubitemid 30058742)
7. Hoque MO, Begum S, Topaloglu O, et al: Quantitation of promoter methylation of multiple genes in urine DNA and bladder cancer detection. J Natl Cancer Inst 98: 996-1004, 2006. (Pubitemid 44288164)
8. Nygren AO, Ameziane N, Duarte HM, et al: Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 33: e128, 2005. (Pubitemid 41222585)
9. Procter M, Chou LS, Tang W, Jama M and Mao R: Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem 52: 1276-1283, 2006. (Pubitemid 43956018)
10. Enlund F, Samuelsson L, Enerbäck C, et al: Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden. Eur J Hum Genet 7: 783-790, 1999. (Pubitemid 29516237)
11. Bergman A, Einbeigi Z, Olofsson U, et al: The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Eur J Hum Genet 9: 787-793, 2001. (Pubitemid 33014592)
12. Bishop JN, Harland M, Randerson-Moor J and Bishop DT: Management of familial melanoma. Lancet Oncol 8: 46-54, 2007.
13. Chen Y, Toland AE, McLennan J, Fridlyand J, Crawford B, Costello JF and Ziegler JL: Lack of germ-line promoter methylation in BRCA1-negative families with familial breast cancer. Genet Test 10: 281-284, 2006. (Pubitemid 46193280)