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Title: A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
Authors: Harland M,  Goldstein AM,  Kukalizch K,  Taylor C,  Hogg D,  Puig S,  Badenas C,  Gruis N,  ter Huurne J,  Bergman W,  Hayward NK,  Stark M,  Tsao H,  Tucker MA,  Landi MT,  Scarra GB,  Ghiorzo P,  Kanetsky PA,  Elder D,  Mann GJ,  Holland EA,  Bishop DT,  Bishop JN,  GenoMEL, the Melanoma Genetics Consortium
Journal: Eur J Cancer
Date: 2008 Jun
Branches: ITEB, HGP, LTG
PubMed ID: 18394881
PMC ID: PMC2494985
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.