Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma

Cancer Epidemiology

Volumn 35, Issue 6, 2011, Pages

  Pedace, Lucia ^a   De Simone, Paola ^b   Castori, Marco ^a   Sperduti, Isabella ^b   Silipo, Vitaliano ^b   Eibenschutz, Laura ^b   De Bernardo, Carmelilia ^a   Buccini, Pierluigi ^b   Moscarella, Elvira ^b   Panetta, Chiara ^b   Ferrari, Angela ^b   Grammatico, Paola ^a   Catricalà, Caterina ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

Author keywords

Cancer genes; Genotype phenotype correlation; Individual patient's probability; Multiple primary melanoma; Multivariate analysis; Pre symptomatic test

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; DNA;

ADULT; ARTICLE; BRESLOW THICKNESS; CANCER PATIENT; CLINICAL FEATURE; CONTROLLED STUDY; CUTANEOUS PARAMETERS; FAMILIAL CANCER; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; ITALY; MAJOR CLINICAL STUDY; MALE; MELANOMA; MULTIPLE CANCER; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PREDICTION; PRIORITY JOURNAL; SKIN CANCER;

ADULT; AGE OF ONSET; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, P16; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MELANOMA; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PEDIGREE; SKIN NEOPLASMS;

EID: 81055156168     PISSN: 18777821     EISSN: 1877783X     Source Type: Journal    
DOI: 10.1016/j.canep.2011.07.007     Document Type: Article

References (32)

1. Diepgen T.L., Mahler V. The epidemiology of skin cancer. Br J Dermatol 2002, 146(Suppl. 61):1-6.
2. Lin J., Hocker T.L., Singh M., Tsao H. Genetics of melanoma predisposition. Br J Dermatol 2008, 159:286-291.
3. Ang C.G., Kelly J.W., Fritschi L., Dowling J.P. Characteristics of familial and non-familial melanoma in Australia. Melanoma Res 1998, 8:459-464.
4. Hemminki K., Lönnstedt I., Vaittinen P. A population-based study of familial cutaneous melanoma. Melanoma Res 2001, 11:133-140.
5. Gandini S., Sera F., Cattaruzza M.S., Pasquini P., Zanetti R., Masini C., et al. Meta-analysis of risk factors for cutaneous melanoma: III Family history, actinic damage and phenotypic factors. Eur J Cancer 2005, 41:2040-2059.
6. Haluska F.G., Hodi F.S. Molecular genetics of familial cutaneous melanoma. J Clin Oncol 1998, 16:670-682.
7. Bataille V. Genetic epidemiology of melanoma. Eur J Cancer 2003, 39:1341-1347.
8. Florell S.R., Boucher K.M., Garibotti G., Astle J., Kerber R., Mineau G., et al. Population-based analysis of prognostic factors and survival in familial melanoma. J Clin Oncol 2005, 23:7168-7177.
9. Gray-Schopfer V.C., Cheong S.C., Chong H., Chow J., Moss T., Abdel-Malek Z.A., et al. Cellular senescence in naevi and immortalisation in melanoma: a role for p16?. Br J Cancer 2006, 95:496-505.
10. Rizos H., Scurr L.L., Irvine M., Alling N.J., Kefford R.F. p14ARF regulates E2F-1 ubiquitination and degradation via a p53-dependent mechanism. Cell Cycle 2007, 6:1741-1747.
11. Hayward N.K. Genetics of melanoma predisposition. Oncogene 2003, 19:3053-3062.
12. Bishop D.T., Demenais F., Goldstein A.M., Bergman W., Bishop J.N., Bressac-de Paillerets B., et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002, 94:894-903.
13. Begg C.B., Orlow I., Hummer A.J., Armstrong B.K., Kricker A., Marrett L.D., et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005, 97:1507-1515.
14. Goldstein A.M. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat 2004, 23:630.
15. Goldstein A.M., Chan M., Harland M., Hayward N.K., Demenais F., Bishop D.T., et al. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet 2007, 44:99-106.
16. Leachman S.A., Carucci J., Kohlmann W., Banks K.C., Asgari M.M., Bergman W., et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol 2009, 61(677):e1-e14.
17. Goldstein A.M., Chan M., Harland M., Gillanders E.M., Hayward N.K., Avril M.F., et al. High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. Cancer Res 2006, 15:9818-9828.
18. Fargnoli M.C., Chimenti S., Keller G., Soyer H.P., Dal Pozzo V., Höfler H., et al. CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds. J Invest Dermatol 1998, 111:1202-1206.
19. Ghiorzo P., Ciotti P., Mantelli M., Heouaine A., Queirolo P., Rainero M.L., et al. Characterization of ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 1999, 83:441-448.
20. Della Torre G., Pasini B., Frigerio S., Donghi R., Rovini D., Delia D., et al. CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. Br J Cancer 2001, 85:836-844.
21. Mantelli M., Barile M., Ciotti P., Ghiorzo P., Lantieri F., Pastorino L., et al. High prevalence of the G101W germline mutation in the CDKN2A (P16INK4a) gene in 62 Italian malignant melanoma families. Am J Med Genet 2002, 107:214-221.
22. Gensini F., Sestini R., Piazzini M., Vignoli M., Chiarugi A., Brandani P., et al. The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy. Melanoma Res 2007, 17:387-392.
23. Casula M., Colombino M., Satta M.P., Cossu A., Lissia A., Budroni M., et al. Factors predicting the occurrence of germline mutations in candidate genes among patients with cutaneous malignant melanoma from South Italy. Eur J Cancer 2007, 43:137-143.
24. Bruno W., Ghiorzo P., Battistuzzi L., Ascierto P.A., Barile M., Gargiulo S., et al. Clinical genetic testing for familial melanoma in Italy: a cooperative study. J Am Acad Dermatol 2009, 61:775-782.
25. Majore S., De Simone P., Crisi A., Eibenschutz L., Binni F., Antigoni I., et al. CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. Pigment Cell Melanoma Res 2008, 21:209-211.
26. Landi M.T., Goldstein A.M., Tsang S., Munroe D., Modi W., Ter-Minassian M., et al. Genetic susceptibility in familial melanoma from northeastern Italy. J Med Genet. 2004, 41:557-566.
27. Harland M., Taylor C.F., Chambers P.A., Kukalizch K., Randerson-Moor J.A., Gruis N.A., et al. A mutation hotspot at the p14ARF splice site. Oncogene 2005, 30:4604-4608.
28. Binni F., Antigoni I., De Simone P., Majore S., Silipo V., Crisi A., et al. Novel and recurrent p14 mutations in Italian familial melanoma. Clin Genet. 2010, 77:581-586.
29. Soufir N., Lacapere J.J., Bertrand G., Matichard E., Meziani R., Mirebeau D., et al. Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma. Br J Cancer. 2004, 90:503-509.
30. Bishop J.N., Harland M., Randerson-Moor J., Bishop D.T. Management of familial melanoma. Lancet Oncol 2007, 8:46-54.
31. Kasparian N.A., Meiser B., Butow P.N., Simpson J.M., Mann G.J. Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genet Med 2009, 11:265-278.
32. Kannengiesser C., Brookes S., del Arroyo A.G., Pham D., Bombled J., Barrois M., et al. Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. Hum Mutat 2009, 30:564-574.