Novel and recurrent p14ARF mutations in Italian familial melanoma

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 581-586

  Binni, F ^a   Antigoni, I ^a   De Simone, P ^b   Majore, S ^a   Silipo, V ^b   Crisi, A ^a   Amantea, A ^b   Pacchiarini, D ^c   Castori, M ^a   De Bernardo, C ^a   Catricala C ^b   Grammatico, P ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^c SAN CAMILLO FORLANINI HOSPITAL   (Italy)

Author keywords

ARF; CDKN2A; FAM; MPM; Point mutation; Splice site

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A;

ADULT; ARTICLE; EXON; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MELANOMA; OPEN READING FRAME; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; AMINO ACID SEQUENCE; COHORT ANALYSIS; FAMILY; GENETICS; MOLECULAR GENETICS; MUTATION; SKIN TUMOR; TUMOR SUPPRESSOR GENE;

AMINO ACID SEQUENCE; COHORT STUDIES; FAMILY; GENES, P16; HUMANS; ITALY; MELANOMA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SKIN NEOPLASMS; TUMOR SUPPRESSOR PROTEIN P14ARF;

EID: 77953932379     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01298.x     Document Type: Article

References (20)

1. Greene MH. The genetics of hereditary melanoma and nevi. 1998 update. Cancer 1999, 86(Suppl. 11):2464-2677.
2. Hayward N. New developments in melanoma genetics. Curr Oncol Rep 2000, 2:300-306.
3. Piepkorn M. Melanoma genetics: an update with focus on the CDKN2A(p16)/ARF tumor suppressors. J Am Acad Dermatol 2000, 42:705-722.
4. Haber DA. Splicing into senescence: the curious case of p16 and p19ARF. Cell 1997, 91:555-558.
5. Zhang Y, Xiong Y, Yarbrough WG. ARF promotes MDM2 degradation and stabilizes p53: ARF-INK4a locus deletion impairs both the Rb and p53 tumor suppression pathways. Cell 1998, 92:725-734.
6. Randerson-Moor JA, Harland M, Williams S. A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumor syndrome family. Hum Mol Genet 2001, 10:55-62.
7. Rizos H, Puig S, Badenas C. A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. Oncogene 2001, 20:5543-5547.
8. Hewitt C, Lee Wu C, Evans G. Germline mutation of ARF in a melanoma kindred. Hum Mol Genet 2002, 11:1273-1279.
9. Harland M, Taylor CF, Chambers PA. A mutation hotspot at the p14ARF splice site. Oncogene 2005, 24:4604-4608.
10. Laud K, Marian C, Avril MF. French Hereditary Melanoma Study Group. Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. J Med Genet 2006, 43:39-47.
11. Goldstein AM, Chan M, Harland M. Melanoma Genetics Consortium (GenoMEL). High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 2006, 66:9818-9828.
12. Ghiorzo P, Pastorino L, Pizzichetta MA. CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Res. 2009, 3:142-145. on behalf of the, Italian Melanoma Intergroup
13. Majore S, De Simone P, Crisi A. CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. Pigment Cell Melanoma Res 2008, 21:209-211.
14. Rizos H, Darmanian AP, Mann GJ, Kefford RF. Two arginine rich domains in the p14ARF tumor suppressor mediate nucleolar localization. Oncogene 2000, 19:2978-2985.
15. Soufir N, Lacapere JJ, Bertrand G. Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma. Br J Cancer 2004, 90:503-509.
16. Goldstein AM, Tucker MA. Genetic epidemiology of familial melanoma. Dermatol Clin 1995, 13:605-612.
17. Soufir N, Avril MF, Chompret A. Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 1998, 7:209-216.
18. Dracopoli NC, Fountain JW. CDKN2 mutations in melanoma. Cancer Surv 1996, 26:115-132.
19. Knappskog S, Geisler J, Arnesen T, Lillehaug JR, Lønning PE. A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family. Genes Chromosomes Cancer 2006, 45:1155-1163.
20. Hitchins MP, Wong JJ, Suthers G. Inheritance of a cancer-associated MLH1 germline epimutation. N Engl J Med 2007, 356:697-705.