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Familial Cancer
Published in: Familial Cancer 2/2008

01-06-2008

Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

Authors: Margaret Smith, Susan Fawcett, Emanouil Sigalas, Richard Bell, Sophie Devery, Nikolina Andrieska, Ingrid Winship

Published in: Familial Cancer | Issue 2/2008

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Abstract

The co-existence of mutations in the BRCA1 and BRCA2 genes is unusual, and to date almost all cases reported have had at least one of the Ashkenazi founder mutations. We report on a family in whom individuals are double heterozygotes for a mutation in BRCA1 and a novel splice site mutation in BRCA2. The phenotypes are discordant, where one sister has had multiple cancers in the BRCA spectrum, while the other is unaffected at 65 years of age. The utility of testing is discussed, and the completion of diagnostic testing despite the finding of a potentially causal mutation is validated.
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Metadata
Title
Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes
Authors
Margaret Smith
Susan Fawcett
Emanouil Sigalas
Richard Bell
Sophie Devery
Nikolina Andrieska
Ingrid Winship
Publication date
01-06-2008
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2008
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-007-9154-8

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