Article
A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).
European journal of cancer (Oxford, England : 1990) - 1 Jun 2008
Harland Mark, Goldstein Alisa M, Kukalizch Kairen, Taylor Claire, Hogg David, Puig Susana, Badenas Celia, Gruis Nelleke, ter Huurne Jeanet, Bergman Wilma, Hayward Nicholas K, Stark Mitchell, Tsao Hensin, Tucker Margaret A, Landi Maria Teresa, Scarra Giovanna Bianchi, Ghiorzo Paola, Kanetsky Peter A, Elder David, Mann Graham J, Holland Elizabeth A, Bishop D Timothy, Bishop Julia Newton
Abstract excerpt
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...
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