Mutations in brief

Germ-line mutations in the pi6/CDKN2 gene are known to predispose to melanoma. This gene belongs to a family of cyclin-dependent kinase inhibitors and blocks G 1-S progression. The occurrence of p 16/CDKN2 germline mutations in 12 Icelandic melanoma kind reds (kind reds 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 described in solid tumours were idenitifed, Pro48Leu, Ala57Val, Gly89Asp,Leuii7Met, Tyrl29Stop. © 1998 Wiley-Liss, Inc. Appearances Can Be Deceptive: An APC 189Jdel4 Mutation With Unusual Properties; Ian M. Frayling;• John G. Armstrong/ D. Rhodri Davies,' D. Gareth R. Evans,' and Simon P. Guy' 1Colorectal Cancer Unit, lmf>erial Cancer Research Fund, St Mark's HosfJital, Northwick /'ark, Harrow, HA I 3 U], UK; Fax: + 44-181-2 35-4 2 77; 1 DefJartment of Medical Genetic.1, St Mary'o~ Hosf>ital, Hathersage Road, Manchester, M/3 O]H, UK Communicated hy Haig H. Kazazian, ]r. Received December 9, 1997; accepted february 10, 1998 *Correspondence to: ian Frayling; E-mail: frayling(illicrf.icnct.uk Online Citation: Human Mutation, Mutation in Brief #171 (1997) Onlme http://journals. wiley.com/1 059-7794/pdf/mutation/1997 _ 58.pdf