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Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome

We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpo...

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Bibliographic Details
Main Authors: Concolino, Paola (Author) , Rizza, Roberta (Author) , Hackmann, Karl (Author) , Paris, Ida (Author) , Minucci, Angelo (Author) , De Paolis, Elisa (Author) , Scambia, Giovanni (Author) , Zuppi, Cecilia (Author) , Schröck, Evelin (Author) , Capoluongo, Ettore (Author)
Format: Article (Journal)
Language:English
Published: 09 May 2017
In: Breast cancer research and treatment
Year: 2017, Volume: 164, Issue: 2, Pages: 497-503
ISSN:1573-7217
DOI:10.1007/s10549-017-4275-8
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10549-017-4275-8
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Author Notes:Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
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Summary:We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpoints of the duplication.
Item Description:Gesehen am 21.09.2021
Physical Description:Online Resource
ISSN:1573-7217
DOI:10.1007/s10549-017-4275-8

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