Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility
Fig 1
Effect of MCPH1 c.904_916del mutation at the mRNA and protein level.
(A) Schematic presentation of the MCPH1 protein and the position of the observed truncating mutation. (B) Sequence chromatogram comparisons of genomic DNA and cDNA of heterozygous mutation carriers and a wild-type control. (C) Immunoblotting of 3 mutation carriers and 3 non-carriers with an antibody directed towards the amino-terminus of MCPH1. The representative image of altogether three independent experiments is shown.