Article
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
PloS one - 1 Jan 2021
Ozgencil Meryem, Barwell Julian, Tischkowitz Marc, Izatt Louise, Kesterton Ian, Simpson Michael, Sharpe Paul, de Sepulveda Paulo, Voisset Edwige, Solomon Ellen
Abstract excerpt
Establishing a universally applicable protocol to assess the impact of BRCA1 variants of uncertain significance (VUS) expression is a problem which has yet to be resolved despite major progresses have been made. The numerous difficulties which must be overcome include the choices of cellular models and functional assays. We hypothesised that the use of induced pluripotent stem (iPS) cells might facilitate the...
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