title: A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
abstract: CDKN2A is the major melanoma susceptibility gene so far identified, but only 40% of three or more case families have identified mutations. A comparison of mutation detection rates was carried out by "blind" exchange of samples across GenoMEL, the Melanoma Genetics Consortium, to establish the false negative detection rates. Denaturing high performance liquid chromatography (DHPLC) screening results from 451 samples were compared to screening data from nine research groups in which the initial mutation screen had been done predominantly by sequencing. Three samples with mutations identified at the local centres were not detected by the DHPLC screen. No additional mutations were detected by DHPLC. Mutation detection across groups within GenoMEL is carried out to a consistently high standard. The relatively low rate of CDKN2A mutation detection is not due to failure to detect mutations and implies the existence of other high penetrance melanoma susceptibility genes.
authors.affiliation: Division of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Cancer Centre at Leeds, St James's University Hospital, Leeds, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Harland
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Kairen
authors.initials: K
authors.lastname: Kukalizch
authors.forename: Claire
authors.initials: C
authors.lastname: Taylor
authors.forename: David
authors.initials: D
authors.lastname: Hogg
authors.forename: Susana
authors.initials: S
authors.lastname: Puig
authors.forename: Celia
authors.initials: C
authors.lastname: Badenas
authors.forename: Nelleke
authors.initials: N
authors.lastname: Gruis
authors.forename: Jeanet
authors.initials: J
authors.lastname: ter Huurne
authors.forename: Wilma
authors.initials: W
authors.lastname: Bergman
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Hayward
authors.forename: Mitchell
authors.initials: M
authors.lastname: Stark
authors.forename: Hensin
authors.initials: H
authors.lastname: Tsao
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Tucker
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Landi
authors.forename: Giovanna Bianchi
authors.initials: GB
authors.lastname: Scarra
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Peter A
authors.initials: PA
authors.lastname: Kanetsky
authors.forename: David
authors.initials: D
authors.lastname: Elder
authors.forename: Graham J
authors.initials: GJ
authors.lastname: Mann
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Holland
authors.forename: D Timothy
authors.initials: DT
authors.lastname: Bishop
authors.forename: Julia Newton
authors.initials: JN
authors.lastname: Bishop
mesh_terms: D002851:Chromatography, High Pressure Liquid; D019942:Genes, p16; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D011110:Polymorphism, Genetic; D012878:Skin Neoplasms / Q000235:genetics*