Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

Marc Tischkowitz, Nancy Hamel, Marcelo Carvalho, Gabriel Birrane, Aditi Soni, Erik van Beers, Simon Joosse, Nora Wong, David Novak, Louise Quenneville, Scott Grist, kConFab Investigators, Petra Nederlof, David Goldgar, Sean Tavtigian, Alvaro Monteiro, John Ladias, William Foulkes

    Research output: Contribution to journalArticle

    31 Citations (Scopus)
    Original languageEnglish
    Article numberCC
    Pages (from-to)820-832
    Number of pages13
    JournalEuropean Journal of Human Genetics
    Volume16
    Issue number7
    Publication statusPublished - 2008

    Cite this

    Tischkowitz, M., Hamel, N., Carvalho, M., Birrane, G., Soni, A., van Beers, E., Joosse, S., Wong, N., Novak, D., Quenneville, L., Grist, S., kConFab Investigators, Nederlof, P., Goldgar, D., Tavtigian, S., Monteiro, A., Ladias, J., & Foulkes, W. (2008). Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. European Journal of Human Genetics, 16(7), 820-832. [CC].