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Journal of Medical Genetics 2005;42:138-146
Copyright © 2008 by the BMJ Publishing Group Ltd.

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Classification of BRCA1 missense variants of unknown clinical significance
C M Phelan, V Dapic, B Tice, R Favis, E Kwan, F Barany, S Manoukian, P Radice, R B van der Luijt, B P M van Nesselrooij, G Chenevix-Trench, kConFab, T Caldes, M de La Hoya, S Lindquist, S V Tavtigian, D Goldgar, A Borg, S A Narod, and A N A Monteiro

In our paper "Classification of BRCA1 variants of unknown clinical significance" we reported that BRCA1 variant M1628V presented markedly reduced activity which suggested that it represented a deleterious variant. During the course of additional experiments (Carvalho and Monteiro, unpublished data) we noticed that constructs containing the M1628V variant described in our paper also included a 3' mutation leading to a truncated protein that was overlooked. We have now generated correct constructs for this variant and performed extensive testing. Contrary to what was reported this variant displayed activity comparable to the wild type BRCA1 suggesting that it corresponds to a neutral variant. We regret this error and apologize for any confusion or inconvenience it may have caused.





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