Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds
β Scribed by Gruis, Nelleke A.; van der Velden, Pieter A.; Sandkuijl, Lodewijk A.; Prins, Duncan E.; Weaver-Feldhaus, Jane; Kamb, Alexander; Bergman, Wilma; Frants, Rune R.
- Book ID
- 109916476
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 310 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1061-4036
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The p16/CDKN2 (MTS1) gene encoding for the p16 inhibitor of cyclin D/CDK4 complexes is frequently mutated and deleted in a large fraction of melanoma cell lines, and p16 germline mutations have also been observed in familial melanomas. Moreover, a CDK4 gene mutation, responsible for a functional res
## 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