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    Hum Mutat. 1998;12(3):212.

    Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online.

    Gretarsdóttir S, Olafsdóttir GH, Borg A.

    Molecular and Cell Biology Reseach Laboratory, Reykjavik, Iceland. solveig@krabb.is

    Germ-line mutations in the p16/CDKN2 gene are known to predispose to melanoma. This gene belongs to a family of cyclin-dependent kinase inhibitors and blocks G1-S progression. The occurrence of p16/CDKN2 germline mutations in 12 Icelandic melanoma kindreds (kindreds with two or more cases of melanoma or melanoma, pancreas and/or glioma cases) was examined. No germ-line mutation was found, however five mutations not previously discribed in solid tumours were identified, Pro48Leu, Ala57Val, Gly89Asp, Leu117Met, Tyr129Stop.

    PMID: 10651484 [PubMed - indexed for MEDLINE]

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