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Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin

Preisler-Adams, S. ; Schönbuchner, I. ; Fiebig, B. ; Welling, B. ; Dworniczak, B. ; Weber, Bernhard H. F.



Abstract

A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by the multiplex ligation–dependent probe amplification technique. Six large genomic alterations were identified in BRCA1, while no gross ...

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