1206 POSTER A study of familial melanoma in greece and identification of germline mutations in the CDKN2A tumour suppressor gene
- Book ID
- 123312787
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 141 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1359-6349
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Germline mutations within the CDKN2A gene, coding for the cyclin-dependent kinase inhibitor p16, have been detected by screening in 8% of Swedish families with an inheritance of cutaneous melanoma (FMM) and dysplastic nevus syndrome (DNS). Contrastingly, the closely related gene CDKN2B had no diseas
## Abstract __CDKN2A__ is a major susceptibility gene for cutaneous malignant melanoma (CMM), but the variable penetrance and clinical manifestations among mutation carriers suggest the existence of modifier factors. The goal of this study was to identify modifier genes for CMM in CMMβprone familie
## Abstract Germline mutations in the __CDKN2A__ gene have been shown to predispose individuals to cutaneous malignant melanoma. Here, we describe three melanomaβprone families and one isolated patient affected by multiple melanoma who carried a tandem germline mutation of __CDKN2A__ at the nucleot