Exclusion of BRAFV599E as a melanoma susceptibility mutation

International Journal of Cancer

Volumn 106, Issue 1, 2003, Pages 78-80

  Meyer, Peter ^a,c   Klaes, Ruediger ^b   Schmitt, Christina ^a   Boettger, Melanie Barbara ^a   Garbe, Claus ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c NONE   (Germany)

Author keywords

BRAF; Genetics; Melanoma

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE;

ADULT; AGED; ARTICLE; BRAF GENE; CANCER GENETICS; CANCER SUSCEPTIBILITY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FAMILIAL CANCER; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM LINE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MELANOMA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; ALLELE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HETEROZYGOTE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SIGNAL TRANSDUCTION; TIME;

ALLELES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; MAP KINASE SIGNALING SYSTEM; MELANOMA; MUTATION; MUTATION, MISSENSE; PEDIGREE; TIME FACTORS;

EID: 0037531526     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.11199     Document Type: Article

References (16)

1. Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH, Jr., Tucker MA, Dracopoli NC. Germline p16 mutations in familial melanoma. Nat Genet 1994;8:15-21.
2. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 1994;8:23-6.
3. Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J. Bressac-dePaillerets B. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French familial melanoma study group. Hum Mol Genet 1998;7:209-16.
4. Aitken J, Welch J, Duffy D, Milligan A, Green A, Martin N, Hayward N. CDKN2A variants in a population-based sample of Queensland families with melanoma. J Natl Cancer Inst 1999;91:446-52.
5. Borg A, Sandberg T, Nilsson K, Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000;92:1260-6.
6. FitzGerald MG, Harkin DP, Silva-Arrieta S, MacDonald DJ, Lucchina LC, Unsal H, O'Neill E, Koh J, Finkelstein DM, Isselbacher KJ, Sober AJ, Haber DA. Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. Proc Natl Acad Sci U S A 1996;93:8541-5.
7. Ghiorzo P, Ciotti P, Mantelli M, Heouaine A, Queirolo P, Rainero ML, Ferrari C, Santi PL, De Marchi R, Farris A, Ajmar F, Bruzzi P, et al. Characterization of ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 1999;83:441-8.
8. Goldstein AM, Tucker MA. Screening for CDKN2A mutations in hereditary melanoma. J Natl Cancer Inst 1997;89:676-8.
9. Gruis NA, van der Velden PA, Sandkuijl LA, Prins DE, Weaver-Feldhaus J, Kamb A, Bergman W, Frants RR, Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995;10:351-3.
10. Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr NK, Frischauf AM, Bataille V, Peters G, Cuzick J, Selby P, Bishop DT, et al. Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Genet 1997;6:2061-7.
11. Holland EA, Schmid H, Kefford RF, Mann GJ. CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. Genes Chromosomes Cancer 1999;25:339-48.
12. Liu L, Lassam NJ, Slingerland JM, Bailey D, Cole D, Jenkins R, Hogg D. Germline p16INK4A mutation and protein dysfunction in a family with inherited melanoma. Oncogene 1995;11:405-12.
13. Platz A, Hansson J, Mansson-Brahme E, Lagerlof B, Linder S, Lundqvist E, Sevigny P, Inganas M, Ringborg U. Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish families with hereditary cutaneous melanoma. J Natl Cancer Inst 1997;89:697-702.
14. Soufir N, Bressac-de Paillerets B, Desjardins L, Levy C, Bombled J, Gorin I, Schlienger P, Stoppa-Lyonnet D. Individuals with presumably hereditary uveal melanoma do not harbour germline mutations in the coding regions of either the P16INK4A, P14ARF or cdk4 genes. Br J Cancer 2000;82:818-22.
15. Walker GJ, Hussussian CJ, Flores JF, Glendening JM, Haluska FG, Dracopoli NC, Hayward NK, Fountain JW. Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum Mol Genet 1995;4:1845-52.
16. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54.