Article
Detection of BRCA1 and BRCA2 Ashkenazi Jewish founder mutations in formalin-fixed paraffin-embedded tissues using conventional PCR and heteroduplex/amplicon size differences.
The Journal of molecular diagnostics : JMD - 1 Jan 2010
Mangold Kathy A, Wang Vivien, Weissman Scott M, Rubinstein Wendy S, Kaul Karen L
Abstract excerpt
In many families with histories suggestive of BRCA1- or BRCA2-related disease, the proband is deceased. Reliable assessment of archived tissue blocks not amenable to full gene sequencing would be helpful. In this study, a polymerase chain reaction (PCR) assay using primers that bracket the BRCA mutation site and microfluidics-based detection of heteroduplex/amplicon size differences was developed to circumvent...
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