Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
- Lovelock P. K.
- Healey, S.
- Au, W.
- Sum, E, Y. M.
- Tesoriero, A.
- Wong, E. M.
- Hinson, S.
- Brinkworth, R.
- Bekessy, A.
- Diez, O.
- Izatt, L.
- Solomon, E.
- Jenkins, M.
- Renard, H.
- Hopper, J.
- Waring, P.
- kConFab Investigators
- Tavtigian, S. V.
- Goldgar, D.
- Lindeman, G J .
- Visvader, J. E.
- Couch, F. J.
- Henderson, B. R.
- Southey, M.
- Chenevix-Trench, G.
- Spurdle, A. B.
- Brown, M. A.
DOIAbstract
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
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