Journal article
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
PK Lovelock, S Healey, W Au, EYM Sum, A Tesoriero, EM Wong, S Hinson, R Brinkworth, A Bekessy, O Diez, L Izatt, E Solomon, M Jenkins, H Renard, J Hopper, P Waring, SV Tavtigian, D Goldgar, GJ Lindeman, JE Visvader Show all
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2006
Abstract
Background: The vast majority of BRCA1 missense sequence variants remain uncharacterised for their possible effect on protein expression and function, and therefore are unclassified in terms of their pathogenicity. BRCA1 plays diverse cellular roles and it is unlikely that any single functional assay will accurately reflect the total cellular implications of missense mutations in this gene. Objective: To elucidate the effect of two BRCA1 variants, 5236G>C (G1706A) and 5242C>A (A1708E) on BRCA1 function, and to survey the relative usefulness of several assays to direct the characterisation of other unclassified variants in BRCA genes. Methods and Results: Data from a range of bioinformatic, g..
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