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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Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2007
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2246181/
https://ncbi.nlm.nih.gov/pubmed/18036263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/bcr1826
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