CDKN2A: The IVS2-105A/G Intronic Mutation Found in an Italian Patient Affected by Eight Primary Melanomas [1]

Journal of Investigative Dermatology

Volumn 122, Issue 2, 2004, Pages 450-451

  Majore, Silvia ^a   Catricalà, Caterina ^b   Binni, Francesco ^a,c   De Simone, Paola ^b   Eibenschutz, Laura ^b   Grammatico, Paola ^a,c  

^a SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

CDKN2A GENE; CHROMOSOME 9P; DISEASE PREDISPOSITION; DNA SPLICING; EXON; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; INTRON; ITALY; LETTER; MELANOMA; PRIORITY JOURNAL; PROTEIN FUNCTION; WILD TYPE;

EID: 1442348076     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2004.22222.x     Document Type: Article

References (15)

1. Box NF, Duffy DL, Chen W, et al: MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 69:765-773, 2001
2. Dracopoli NC, Fountain JW; CDKN2A mutations in melanoma. Cancer Surv 26:115-131, 1996
3. Greene MH: The genetics of hereditary melanoma and nevi. Cancer 86:2464-2477, 1999
4. Harland M, Mistry S, Bishop DT, Bishop JAN: A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 23:2679-2686, 2001
5. Hashemi J, Platz A, Ueno T, Stierner U, Ringborg U, Hansson J: CDKN2A germline mutations in individuals with multiple cutaneous melanomas. Cancer Res 60:6864-6867, 2000
6. Kamb A, Gruis NA, Weaver-Feldhaus J, et al: A cell cycle regulator potentially involved in genesis of many tumors. Science 264:436-440, 1994
7. Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N, Hogg D: Mutation of the CDKN2A 5′ UTR creates an aberrant initiation codon and predisposes to melanoma. Nat Genet 21:128-132, 1999
8. Liu L, Goldstein AM, Tucker MA, Brill H, Grui NA, Hogg D, Lassam NJ: Affected members of melanoma-prone families with linkage to 9p21 but lacking mutations in CDKN2A do not harbor mutations in the coding regions of either CDKN2B or p19ARF. Genes Chromosomes Cancer 19:52-54, 1997
9. Newton Bishop JA, Harland M, Bennett DC, et al: Mutation testing in melanoma families: CDKN2A, CDK4 and INK4d. Br J Cancer Res 80:295-300, 1999
10. Nobori T, Miura K, Wu DJ, Lois A, Takabayashi K, Carson DA: Deletions of the cyclin-dependent kinase-4 inhibitor gene in multiple human cancers. Nature 368:753-756, 1994
11. Pollock PM, Pearson JV, Hayward NK: Compilation of somatic mutations of the CDKN2 in human cancers: Non-random distribution of base substitutions. Genes Chromosomes Cancer 15:77-88, 1996
12. Pomerantz J, Schreiber-Agus N, Liegeois NJ, et al: The Ink4a tumor suppressor gene product, p19Arf, Interacts with MDM2 and neutralises MDM2's inhibition of p53. Cell 92:713-723, 1998
13. INK4a/CDKN2A tumor suppressor and its relatives. Biochim Biophys Acta 1378:F115-F177, 1998
14. ARF, participates in a regulatory feedback loop with p53 and MDM2. EMBO J 17:5001-5014, 1998
15. van der Velden PA, Sandkuijl LA, Bergman W, Pavel S, van Mourik L, Frants RR, Gruis NA: Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma. Am J Hum Genet 69:774-779, 2001