title: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus.
abstract: A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for MLM. We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families. In only two families were potential predisposing mutations identified. No evidence was found for heterozygous deletions of CDKN2 in the germline of melanoma-prone individuals. The low frequency of potential predisposing mutations detected suggests that either the majority of mutations fall outside the CDKN2 coding sequence or that CDKN2 is not MLM.
authors.affiliation: Myriad Genetics, Inc., Salt Lake City, Utah 84108.
authors.forename: A
authors.initials: A
authors.lastname: Kamb
authors.forename: D
authors.initials: D
authors.lastname: Shattuck-Eidens
authors.forename: R
authors.initials: R
authors.lastname: Eeles
authors.forename: Q
authors.initials: Q
authors.lastname: Liu
authors.forename: N A
authors.initials: NA
authors.lastname: Gruis
authors.forename: W
authors.initials: W
authors.lastname: Ding
authors.forename: C
authors.initials: C
authors.lastname: Hussey
authors.forename: T
authors.initials: T
authors.lastname: Tran
authors.forename: Y
authors.initials: Y
authors.lastname: Miki
authors.forename: J
authors.initials: J
authors.lastname: Weaver-Feldhaus
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D019941:Cyclin-Dependent Kinase Inhibitor p16; D005787:Gene Frequency; D018095:Germ-Line Mutation; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16