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William I. Towler, Jie Zhang, Derek J. R. Ransburgh, Amanda E. Toland, Chikashi Ishioka, Natsuko Chiba and Jeffrey D. Parvin Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing Human Mutation 34

Article first published online: 12 DEC 2012 | DOI: 10.1002/humu.22251

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Missense substitutions of uncertain clinical significance in the BRCA1 gene are a vexing problem in genetic counseling for women who have a family history of breast or ovarian cancer. In this study, we evaluated whether functional assays for DNA repair can augment the genetic information. We found that the effects of BRCA1 missense substitutions on protein function in homologous recombination repair of DNA double strand breaks were predictive of disease association.

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