Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus.
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.
Kamb
A
A
Myriad Genetics, Inc., Salt Lake City, Utah 84108.
Shattuck-Eidens
D
D
Eeles
R
R
Liu
Q
Q
Gruis
N A
NA
Ding
W
W
Hussey
C
C
Tran
T
T
Miki
Y
Y
Weaver-Feldhaus
J
J
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*
D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16