CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas

Journal of Investigative Dermatology

Volumn 111, Issue 2, 1998, Pages 269-272

  MacKie, Rona M ^a,b   Andrew, Nicola ^b   Lanyon, W G ^b   Connor, J M ^b  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Familial melanoma; Growth suppressor; P16; Tumor suppressor

Indexed keywords

ARGININE; GENE PRODUCT; ISOLEUCINE; METHIONINE; PROTEIN P16;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CANCER SCREENING; CHROMOSOME 9P; CLINICAL ARTICLE; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC LINKAGE; GERM LINE; HUMAN; MALE; MELANOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

EID: 0031879641     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00267.x     Document Type: Article

References (22)

1. Borg A, Johansson U, Johannsson O, et al: Novel germline p16 mutation in familial malignant melanoma in Southern Sweden. Cancer Res 56:2497-2500, 1996
2. Brill H, Liu L, Monzon J, et al: Patients with multiple primary melanomas may have germline CDKN2A mutations and an occult family history of the disease. Melanoma Res 7 (Suppl. 1):134, 1997
3. Burden AD, Vesty JP, Sirel JM, Aitchison TC, Hunter JA, Mackie RM: Multiple primary melanoma: risk factors and prognostic implicationa. Br Med J 309:375, 1994
4. Cairns P, Polascik TJ, Eby Y, et al: Frequency of homozygous deletion at p16 CDKN2 in primary human tumours. Nature Genet 11:210-212, 1995
5. Cannon-Albright LA, Goldgar DE, Meyer LJ, et al: Assignment of a locus for familial melanoma (MLM) to chromosome 9p13-p22. Science 258:1148-1152, 1992
6. Cannon-Albright LA, Goldgar DE, Neuhausen S, et al: Localization of the 9p melanoma susceptibility locus (MLM) to a 2-cM region between D9S736 and D9S171. Genomics 23:265-268, 1994
7. Chaubert P, Shaw P, Pillet N: Informative MsPl polymorphism adjacent to exon 3 of the p16 ink 4 (MTSI) gene. Mol Cell Probes 10:467-468, 1996
8. Fitzgerald MG, Harkin DP, Silva-Arrieta S, et al: Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: Analysis of a clinic based population. Proc Natl Acad Sci 93:8541-8545, 1996
9. Foulkes WD, Flanders TY, Pollock PM, Hayward NK: The CDKN2A (p16) gene and human cancer. Mol Med 3:5-20, 1997
10. Gruis NA, van der Velden PA, Sandkuijl LA, et al: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nature 10:351-353, 1995
11. Harland M, Melom R, Gruis N, et al: Germline mutations of the CDKN2 gene in UK melanoma families. Hum Mol Gen 6:2061-2067, 1997
12. Holland EA, Beaton SC, Becker TM, et al: Analysis of the p16 gene CDKN, 2 in 17 Australian melanoma kindreds. Oncogene 11:2289-2294, 1995
13. Hussussian CJ, Struewing JP, Goldstein AM, et al: Germline p16 mutations in familial melanoma. Nature Genet 8:15-21, 1994
14. Kamb A, Shattuck-Eidens D, Ecles R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 8:22-26, 1994
15. MacGeoch C, Newton Bishop JA, Bataille V, et al: Genetic heterogeneity in familial melanoma. Hum Mol Genet 3:2195-2200, 1994
16. MacKie RM, Hole D, Hunter JAA, et al: Cutaneous malignant melanoma in Scotland Incidence survival, mortality 1979-1994. Br Med J 339:971-975, 1997
17. Orita M, Sizuki Y, Hayashi K: A rapid and sensitive detection of point mutations and genetic polymorphisms using the ploymerase chain reaction. Genomics 5:874-897, 1989
18. Platz A, Hansson J, Mansson Brahme E, et al: Screening of germline mutations in the CDKN2A and CDKN2B genes in Swedish Families with hereditary cutaneous melanoma. J Natl Cancer Inst 89:697-702, 1997
19. Serrano M, Gomez Lahoz E, DePinho RA, Beach D, Bar Sagi D: Inhibition of ras induced proliferation and cellular transformation by p16 INK4. Science 267:249-252, 1995
20. Soutir N, Avril ME, Chompret A, et al: Prevalence of p16, CDK, 4 germline mutations in 48 melanoma-prone families in France. Human Mol Genet 7:209-216, 1998
21. Walker GJ, Hussussian CJ, Flores JF, et al: Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Hum Mol Genet 4:1845-1852, 1995
22. Washimi O, Nagatake M, Osada H, et al: In vivo occurrence of p16 (MTSI) and p15 (MTS2) alterations preferentially in non small cell lung cancer. Cancer Res 55:S14-S17, 1995