A flexible multiplex bead-based assay for detecting germline CDKN2A and CDK4 variants in melanoma-prone kindreds

Journal of Investigative Dermatology

Volumn 131, Issue 2, 2011, Pages 480-486

  Lang, Julie M ^a   Shennan, Michael ^a   Njauw, Jenny C N ^b   Luo, Su ^b   Bishop, Julia N ^c   Harland, Mark ^c   Hayward, Nicholas K ^d   Tucker, Margaret A ^e   Goldstein, Alisa M ^e   Landi, Maria T ^e   Puig, Susana ^f   Gruis, Nelleke A ^g   Bergman, Wilma ^g   Bianchi Scarra, Giovanna ^h,i   Ghiorzo, Paola ^h   Hogg, David ^a   Tsao, Hensin ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^e NATIONAL CANCER INSTITUTE   (United States)

^f HOSPITAL CLÍNIC   (Spain)

^g LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF GENOA   (Italy)

ⁱ UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE INHIBITOR 2A;

ARTICLE; ASSAY; CANCER RISK; CANCER SUSCEPTIBILITY; CONTROLLED STUDY; FAMILIAL CANCER; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MELANOMA; MULTIPLEX BEAD BASED ASSAY; MULTIPLEX POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78651409132     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.331     Document Type: Article

References (19)

1. Bortolin S, Black M, Modi H et al. (2004) Analytical validation of the tag-it high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 50:2028-36
2. Derveaux S, Stubbe BG, Braeckmans K et al. (2008) Synergism between particle-based multiplexing and microfluidics technologies may bring diagnostics closer to the patient. Anal Bioanal Chem 391:2453-67
3. Edmunds SC, Kelsell DP, Hungerford JL et al. (2002) Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci 43:2845-51
4. Goldstein AM, Chan M, Harland M et al. (2006) High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 66:9818-28
5. Goldstein AM, Chan M, Harland M 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
6. Harland M, Goldstein AM, Kukalizch K et al. (2008) A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). Eur J Cancer 44:1269-74
7. Harland M, Taylor CF, Chambers PA et al. (2005) A mutation hotspot at the p14ARF splice site. Oncogene 24:4604-8
8. Hewitt C, Lee Wu C, Evans G et al. (2002) Germline mutation of ARF in a melanoma kindred. Hum Mol Genet 11:1273-9
9. Hogg D, Liu L, Lassam N (2001) Genetic testing in familial melanoma. In: Melanoma: Methods and Protocols (Nickoloff BJ, ed) Vol. 61. Totowa, N.J.: Humana Press
10. Lang J, Boxer M, MacKie RM (2005) CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. Br J Dermatol 153:1121-5
11. Marian C, Scope A, Laud K et al. (2005) Search for germline alterations in CDKN2A/ARF and CDK4 of 42 Jewish melanoma families with or without neural system tumours. Br J Cancer 92:2278-85
12. Molven A, Grimstvedt MB, Steine SJ et al. (2005) A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation. Genes Chromosomes Cancer 44:10-8
13. Orlow I, Begg CB, Cotignola J et al. (2007) CDKN2A germline mutations in individuals with cutaneous malignant melanoma. J Invest Dermatol 127:1234-43
14. Orlow I, Roy P, Barz A et al. (2001) Validation of denaturing high performance liquid chromatography as a rapid detection method for the identification of human INK4A gene mutations. J Mol Diagn 3:158-63
15. Rizos H, Darmanian AP, Holland EA et al. (2001a) Mutations in the INK4a/ ARF melanoma susceptibility locus functionally impair p14ARF. J Biol Chem 276:41424-34
16. Rizos H, Puig S, Badenas C et al. (2001b) A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene 20:5543-7
17. Soufir N, Avril MF, Chompret A et al. (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. Hum Mol Genet 7:209-16
18. Udayakumar D, Tsao H (2009) Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. Genome Med 1:95
19. INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12:97-9