A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

So far, two genes associated with familial melanoma have been identified, accounting for a minority of genetic risk in families. Mutations in CDKN2A account for approximately 40% of familial cases(1), and predisposing mutations in CDK4 have been reported in a very small number of melanoma kindreds(2...

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Autores principales: Yokoyama, Satoru, Woods, Susan L., Boyle, Glen M., Aoude, Lauren G., MacGregor, Stuart, Zismann, Victoria, Gartside, Michael, Cust, Anne E., Haq, Rizwan, Harland, Mark, Taylor, John C., Duffy, David L., Holohan, Kelly, Dutton-Regester, Ken, Palmer, Jane M., Bonazzi, Vanessa, Stark, Mitchell S., Symmons, Judith, Law, Matthew H., Schmidt, Christopher, Lanagan, Cathy, O’Connor, Linda, Holland, Elizabeth A., Schmid, Helen, Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Jenkins, Mark A., Kefford, Richard F., Giles, Graham G., Armstrong, Bruce K., Aitken, Joanne F., Hopper, John L., Whiteman, David C., Pharoah, Paul D., Easton, Douglas F., Dunning, Alison M., Newton-Bishop, Julia A., Montgomery, Grant W., Martin, Nicholas G., Mann, Graham J., Bishop, D. Timothy, Tsao, Hensin, Trent, Jeffrey M., Fisher, David E., Hayward, Nicholas K., Brown, Kevin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266855/
https://www.ncbi.nlm.nih.gov/pubmed/22080950
http://dx.doi.org/10.1038/nature10630

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