title: No germline mutations in CDKN2A (p16) in patients with squamous cell cancer of the head and neck and second primary tumours.
abstract: There is increasing evidence that predisposition to some cancers has a genetic component. There is a high incidence of loss of heterozygosity on chromosome 9, in the region of tumour suppressor gene, CDKN2A (also known as p16), in sporadic squamous cell cancer of the head and neck (SCCHN). To investigate the possibility that CDKN2A may be involved in the inherited susceptibility to SCCHN, the 3 coding exons of CDKN2A were sequenced in 40 patients who had developed a second primary cancer after an index squamous cell cancer of the head and neck. No mutations were found and we conclude that CDKN2A mutations do not play a major role in cancer susceptibility in this group.
authors.affiliation: Cancer Genetics, Institute of Cancer Research, 15 Cotswold Rd, Sutton, Surrey
authors.forename: S
authors.initials: S
authors.lastname: Jefferies
authors.forename: S M
authors.initials: SM
authors.lastname: Edwards
authors.forename: R A
authors.initials: RA
authors.lastname: Hamoudi
authors.forename: R
authors.initials: R
authors.lastname: A'Hern
authors.forename: W
authors.initials: W
authors.lastname: Foulkes
authors.forename: D
authors.initials: D
authors.lastname: Goldgar
authors.forename: R
authors.initials: R
authors.lastname: Eeles
mesh_terms: D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000032:analysis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16