Mutations associated with familial melanoma impair p16INK4 function
โ Scribed by Ranade, Koustubh; Hussussian, Christopher J.; Sikorski, Robert S.; Varmus, Harold E.; Goldstein, Alisa M.; Tucker, Margaret A.; Serrano, Manuel; Hannon, Gregory J.; Beach, David; Dracopoli, Nicholas C.
- Book ID
- 109915976
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 435 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1061-4036
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Melanoma-associated germline mutations affecting the tumor suppressor and cyclin-dependent kinase (CDK) inhibitor, CDKN2A/p16INK4a, have been identified in over 100 melanoma-prone families worldwide. To predict the melanoma risk for carriers of specific mutations, mutant p16INK4a can be tested in bi
Inherited mutations affecting the INK4a/ARF locus (CDKN2A) are associated with melanoma susceptibility in 40% of multiple case melanoma families. Over 60 different germline INK4a/ARF mutations have been detected in more than 190 families worldwide. The majority of these alterations are missense muta
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16 INK4a and CDK4) was undertaken in 131 probands with a family history of melanoma. Screening of all three exons of CDKN2A and exon 2 of CDK4 by single-strand conformation polymorphism (SSCP) analysis and/or direct sequenci