A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)

Mark Harland, Alisa M. Goldstein, Kairen Kukalizch, Claire Taylor, David Hogg, Susana Puig, Celia Badenas, Nelleke Gruis, Jeanet ter Huurne, Wilma Bergman, Nicholas K. Hayward, Mitchell Stark, Hensin Tsao, Margaret A. Tucker, Maria Teresa Landi, Giovanna Bianchi Scarra, Paola Ghiorzo, Peter A. Kanetsky, David Elder, Graham J. MannElizabeth A. Holland, D. Timothy Bishop, Julia Newton Bishop

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1269-1274
Number of pages6
JournalEuropean Journal of Cancer
Volume44
Issue number9
DOIs
Publication statusPublished - Jun 2008

Fingerprint

Melanoma
Mutation
High Pressure Liquid Chromatography
Mutation Rate
Penetrance
Genes
Research

Keywords

  • Audit
  • CDKN2A
  • DHPLC
  • False negative
  • Melanoma
  • Mutation detection
  • Polymorphism
  • Sequencing

ASJC Scopus subject areas

  • Cancer Research
  • Hematology
  • Oncology

Cite this

Harland, M., Goldstein, A. M., Kukalizch, K., Taylor, C., Hogg, D., Puig, S., ... Newton Bishop, J. (2008). A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). European Journal of Cancer, 44(9), 1269-1274. https://doi.org/10.1016/j.ejca.2008.03.005

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). / 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; Newton Bishop, Julia.

In: European Journal of Cancer, Vol. 44, No. 9, 06.2008, p. 1269-1274.

Research output: Contribution to journalArticle

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 & Newton Bishop, J 2008, 'A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL)', European Journal of Cancer, vol. 44, no. 9, pp. 1269-1274. https://doi.org/10.1016/j.ejca.2008.03.005
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 ; Newton Bishop, Julia. / A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL). In: European Journal of Cancer. 2008 ; Vol. 44, No. 9. pp. 1269-1274.
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