Article
Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.
International journal of cancer - 15 Feb 2000
Spitzer E, Abbaszadegan M R, Schmidt F, Hauser A, Buwitt U, Lauter F R, Pötschick K, Krocker J, Elling D, Grosse R
Abstract excerpt
We have developed a 2-stage protocol for BRCA1 and BRCA2 mutation screening from blood spot paper. Stage 1 screening was aimed to analyze patients at highest risk for the most common disease-associated sequence variants listed in the BIC database. Accordingly, stage1 testing implied detection of 18 disease- associated BRCA1 and 9 BRCA2 mutations by adapting the 5' nuclease assay to heterozygote screening. For...
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