Buchumschlag

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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Concolino, Paola (VerfasserIn) , Rizza, Roberta (VerfasserIn) , Hackmann, Karl (VerfasserIn) , Paris, Ida (VerfasserIn) , Minucci, Angelo (VerfasserIn) , De Paolis, Elisa (VerfasserIn) , Scambia, Giovanni (VerfasserIn) , Zuppi, Cecilia (VerfasserIn) , Schröck, Evelin (VerfasserIn) , Capoluongo, Ettore (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 09 May 2017
In: Breast cancer research and treatment
Year: 2017, Jahrgang: 164, Heft: 2, Pages: 497-503
ISSN:1573-7217
DOI:10.1007/s10549-017-4275-8
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s10549-017-4275-8
Volltext
Verfasserangaben:Paola Concolino, Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Elisa De Paolis, Giovanni Scambia, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 21.09.2021
Beschreibung:Online Resource
ISSN:1573-7217
DOI:10.1007/s10549-017-4275-8

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