Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

INTRODUCTION: Many of the DNA sequence variants identified in the breast cancer susceptibility gene BRCA1 remain unclassified in terms of their potential pathogenicity. Both multifactorial likelihood analysis and functional approaches have been proposed as a means to elucidate likely clinical signif...

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Detalles Bibliográficos
Autores principales: Lovelock, Paul K, Spurdle, Amanda B, Mok, Myth TS, Farrugia, Daniel J, Lakhani, Sunil R, Healey, Sue, Arnold, Stephen, Buchanan, Daniel, Investigators, kConFab, Couch, Fergus J, Henderson, Beric R, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia, Brown, Melissa A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246181/
https://www.ncbi.nlm.nih.gov/pubmed/18036263
http://dx.doi.org/10.1186/bcr1826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246181/
https://www.ncbi.nlm.nih.gov/pubmed/18036263
http://dx.doi.org/10.1186/bcr1826

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