Journal article

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis

Elena A Takano, Gillian Mitchell, Stephen B Fox, Alexander Dobrovic

BMC CANCER | BIOMED CENTRAL LTD | Published : 2008

Abstract

BACKGROUND: Germline inactivating mutations in BRCA1 and BRCA2 underlie a major proportion of the inherited predisposition to breast and ovarian cancer. These mutations are usually detected by DNA sequencing. Cost-effective and rapid methods to screen for these mutations would enable the extension of mutation testing to a broader population. High resolution melting (HRM) analysis is a rapid screening methodology with very low false negative rates. We therefore evaluated the use of HRM as a mutation scanning tool using, as a proof of principle, the three recurrent BRCA1 and BRCA2 founder mutations in the Ashkenazi Jewish population in addition to other mutations that occur in the same regions..

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