| Autor: |
Mantelli, Michela, Barile, Monica, Ciotti, Paola, Ghiorzo, Paola, Lantieri, Francesca, Pastorino, Lorenza, Catricalà, Caterina, Torre, Gabriella Della, Folco, Ugo, Grammatico, Paola, Padovani, Laura, Pasini, Barbara, Rovini, Dario, Queirolo, Paola, Rainero, Maria Luisa, Santi, Pier Luigi, Sertoli, Roberto M., Goldstein, Alisa M., Bianchi-Scarrà, Giovanna |
| Zdroj: |
American Journal of Medical Genetics. Part A; 22 January 2002, Vol. 107 Issue: 3 p214-221, 8p |
| Abstrakt: |
CDKN2A germline mutation frequency estimates are commonly based on families with several melanoma cases. When we started counseling in a research setting on gene susceptibility analysis in northern and central Italy, however, we mostly found small families with few cases. Here we briefly characterize those kindred, estimate CDKN2A/CDK4 mutation test yields, and provide indications on the possibility of implementing formal DNA testing for melanoma-prone families in Italy. In September 1995 we started genetic counseling in a research setting at our Medical Genetics Center. Screening for CDKN2A/CDK4 mutations was performed on families with two melanoma patients, one of whom was younger than 50 years at onset, the other complying with one of the following: 1) being a first-degree relative, 2) having an additional relative with pancreatic cancer, or 3) having multiple primary melanomas. Sixty-two of 67 (80%) melanoma cases met our criteria. Four previously described CDKN2A mutations (G101W, R24P, V126D, and N71S) were found in 21 of the 62 families (34%) with a high prevalence of G101W (18/21). The percentage of families with two melanoma cases/family harboring a mutation was low (7%, 2/27), but rose to 45% (9/20) if one of the melanoma patients carried multiple melanomas or if pancreatic cancer was present in that family. In the 15 families with three melanoma cases the presence of a mutation was higher (67%, 10/15) and reached 100% in the 4 families with four or more melanoma cases. Our results suggest that CDKN2A/CDK4 counseling-based mutational analysis may be reasonably efficient also for families with two melanoma cases, if one patient carries multiple melanomas or if pancreatic cancer is present in the family. © 2002 Wiley-Liss, Inc. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
