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2 results on '"Scarra GB"'

1. CDKN2A and MC1R analysis in amelanotic and pigmented melanoma

Author

Ghiorzo, Paola, Pastorino, Lorenza, Pizzichetta, Ma, Bono, R, Queirolo, P, Talamini, R, Annessi, G, Bruno, William, Nasti, Sabina, Gargiulo, Sara, Battistuzzi, Linda, Sini, Mc, Palmieri, G, Bianchi, Giovanna, Italian Melanoma Intergroup, Ghiorzo, P, Pastorino, L, Pizzichetta, Ma, Bono, R, Queirolo, P, Talamini, R, Annessi, G, Bruno, W, Nasti, S, Gargiulo, S, Battistuzzi, L, Sini, Mc, Palmieri, G, and Scarra, Gb

Subjects
Male, Cancer Research, Skin Neoplasms, Penetrance, p14ARF, Dermatology, Biology, medicine.disease_cause, Germline, CDKN2A, Germline mutation, Tumor Suppressor Protein p14ARF, MC1R, medicine, melanoma, Humans, Genetic Predisposition to Disease, Amelanotic melanoma, amelanotic melanoma, neoplasms, Cyclin-Dependent Kinase Inhibitor p16, Genetics, Mutation, Pigmentation, Melanoma, Melanoma, Amelanotic, medicine.disease, Phenotype, Pedigree, Alternative Splicing, Oncology, Italy, Female, Receptor, Melanocortin, Type 1
Abstract

Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case-case study, matching AM and PM patients, and testing them for germline mutations in high(p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas. A p14ARF splice germline mutation was detected for the first time in an Italian family with AM. This rare mutation, which has been described only once previously, may be involved in predisposition to the amelanotic phenotype in combination with germline MC1R variants and coordinate somatic expression of pigmentation genes and their regulators. Melanoma Res 19:142-145 (C) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Published
2009

2. Clinical genetic testing for familial melanoma in Italy: a cooperative study

Author

Bruno, W., Ghiorzo, P., Battistuzzi, L., Ascierto, P. A., Barile, M., Gargiulo, S., Gensini, Francesca, Gliori, S., Guida, M., Lombardo, M., Manoukian, S., Menin, C., Nasti, S., Origone, P., Pasini, B., Pastorino, . L., Peissel, B., Pizzichetta, M. A., Queirolo, P., Rodolfo, M., Romanini, A., Scaini, M. C., Testori, A., Tibiletti, M. G., Turchetti, D., Leachman, S. A., Bianchi Scarrà, G., Imi, Italian Melanoma Intergroup, Bruno, W, Ghiorzo, P, Battistuzzi, L, Ascierto, Pa, Barile, M, Gargiulo, S, Gensini, F, Gliori, S, Guida, M, Lombardo, M, Manoukian, S, Menin, C, Nasti, S, Origone, P, Pasini, B, Pastorino, L, Peissel, B, Pizzichetta, Ma, Queirolo, P, Rodolfo, M, Romanini, A, Scaini, Mc, Testori, A, Tibiletti, Mg, Turchetti, D, Leachman, Sa, Scarra, Gb, Bruno W., Ghiorzo P., Battistuzzi L., Ascierto P.A., Barile M., Gargiulo S., Gensini F., Gliori S., Guida M., Lombardo M., Manoukian S., Menin C., Nasti S., Origone P. Pasini B., Pastorino L., Peissel B., Pizzichetta M.A., Queirolo P., Rodolfo M., Romanini A., Scaini M.C., Testori A., Tibiletti M.G., Turchetti D., Leachman S.A., Bianchi Scarrà G., IMI, and Italian Melanoma Intergroup.

Subjects
Skin Neoplasms, cyclin-dependent kinase 4, cyclin-dependent kinase inhibitor 2A, familial melanoma, genetic testing, GENETIC COUNSELING, Genetic counseling, Dermatology, Neoplasms, Multiple Primary, CDKN2A, Gene Frequency, medicine, melanoma, Humans, Point Mutation, Hereditary Melanoma, Allele frequency, Cyclin-Dependent Kinase Inhibitor p16, Genetic testing, Family Health, Genetics, medicine.diagnostic_test, business.industry, Melanoma, medicine.disease, Human genetics, Italy, Mutation (genetic algorithm), business
Abstract

Background: The Italian Society of Human Genetics'(SIGU) recommendations on genetic counseling and testing for hereditary melanoma state that clinical genetic testing can be offered to Italian melanoma families with at least two affected members. Objective: In the framework of a cooperative study, we sought to establish the frequency of cyclin-dependent kinase inhibitor 2,4 mutations in melanoma families that underwent clinical genetic Counseling and testing in accordance with die SIGU recommendations at 9 centers in different Italian regions. Methods: inhibitor 2A testing was conducted by direct sequencing and multiplex ligation-dependent probe amplification analysis in melanoma families with at least two affected members. Results: A total of 33% (68/204) of the families harbored cyclin-dependent kinase inhibitor 2A Mutations. In the 145 families with two affected members the mutation frequency was 25%. Three novel mutations, L94P, A86T, and c.407dupG, were identified among the cases and not in 200 controls. Limitations: We were unable to perform separate analyses for individual centers, as in some cases the number of families was too small. Conclusions: The availability of clinical genetic testing for melanoma to families with just two affected members in the same branch is justified in Italy in terms of the likelihood of identifying a mutation. (J Am Acad Dermatol 20001:775-82.)

Published
2009

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