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

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 journal › Article › peer-review

41 Citations (Scopus)

Original language	English
Article number	CC
Pages (from-to)	820-832
Number of pages	13
Journal	European Journal of Human Genetics
Volume	16
Issue number	7
Publication status	Published - 2008

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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. Article CC.

@article{c03be0d24c6a40ffa9deaa0e5c1f49d9,

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

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

year = "2008",

language = "English",

volume = "16",

pages = "820--832",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "7",

}

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, vol. 16, no. 7, CC, pp. 820-832.

TY - JOUR

T1 - Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

AU - Tischkowitz, Marc

AU - Hamel, Nancy

AU - Carvalho, Marcelo

AU - Birrane, Gabriel

AU - Soni, Aditi

AU - van Beers, Erik

AU - Joosse, Simon

AU - Wong, Nora

AU - Novak, David

AU - Quenneville, Louise

AU - Grist, Scott

AU - kConFab Investigators, null

AU - Nederlof, Petra

AU - Goldgar, David

AU - Tavtigian, Sean

AU - Monteiro, Alvaro

AU - Ladias, John

AU - Foulkes, William

PY - 2008

Y1 - 2008

M3 - Article

SN - 1018-4813

VL - 16

SP - 820

EP - 832

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

M1 - CC

ER -