PMID- 10651484 OWN - NLM STAT- MEDLINE DCOM- 20000124 LR - 20041117 IS - 1059-7794 (Print) IS - 1059-7794 (Linking) VI - 12 IP - 3 DP - 1998 TI - Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online. PG - 212 AB - 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. FAU - Gretarsdottir, S AU - Gretarsdottir S AD - Molecular and Cell Biology Reseach Laboratory, Reykjavik, Iceland. solveig@krabb.is FAU - Olafsdottir, G H AU - Olafsdottir GH FAU - Borg, A AU - Borg A LA - eng PT - Journal Article PL - United States TA - Hum Mutat JT - Human mutation JID - 9215429 SB - IM MH - Carcinoma/*genetics MH - Genes, p16/*genetics MH - Germ-Line Mutation/*genetics MH - Glioma/*genetics MH - Humans MH - Melanoma/*genetics MH - Pancreatic Neoplasms/*genetics EDAT- 2000/01/29 00:00 MHDA- 2000/01/29 00:01 CRDT- 2000/01/29 00:00 PHST- 2000/01/29 00:00 [pubmed] PHST- 2000/01/29 00:01 [medline] PHST- 2000/01/29 00:00 [entrez] PST - ppublish SO - Hum Mutat. 1998;12(3):212.