Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an Irish case series.

Abstract excerpt

Mutations in BRCA1 and BRCA2 confer a highly increased risk of cancers, mainly of the breast and ovary. Most variants are point mutations or small insertions/deletions detectable by Sanger sequencing. Large genomic rearrangements, including deletions/duplications of multiple exons, are not routinely detectable by Sanger sequencing, but can be reliably identified by Multiplex Ligation-dependent Probe Amplification...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Breast Neoplasms, Male
• Share to Gene Rearrangement