Genetic, functional, and histopathological evaluation of two C‐terminal BRCA1 missense variants

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 assa...

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Detalhes bibliográficos
Main Authors: 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, Investigators, kConFab, 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564506/
https://ncbi.nlm.nih.gov/pubmed/15923272
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.033258
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