Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

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作者
Falk Zakrzewski
Laura Gieldon
Andreas Rump
Michael Seifert
Konrad Grützmann
Alexander Krüger
Sina Loos
Silke Zeugner
Karl Hackmann
Joseph Porrmann
Johannes Wagner
Karin Kast
Pauline Wimberger
Gustavo Baretton
Evelin Schröck
Daniela Aust
Barbara Klink
机构
[1] Core Unit for Molecular Tumor Diagnostics (CMTD),Institute for Clinical Genetics, Medical Faculty Carl Gustav Carus
[2] National Center for Tumor Diseases (NCT),Institute for Medical Informatics and Biometry (IMB), Medical Faculty Carl Gustav Carus
[3] Technische Universität Dresden,Department of Gynecology and Obstetrics
[4] Technische Universität Dresden,undefined
[5] National Center for Tumor Diseases (NCT),undefined
[6] Institute of Pathology,undefined
[7] University Hospital Carl Gustav Carus Dresden,undefined
[8] German Cancer Consortium (DKTK),undefined
[9] University Hospital Carl Gustav Carus Dresden,undefined
[10] Tumor- and Normal Tissue Bank of the University Cancer Center (UCC),undefined
[11] University Hospital Carl Gustav Carus Dresden,undefined
[12] Technische Universität Dresden,undefined
[13] National Center for Tumor Diseases (NCT) Dresden,undefined
来源
BMC Cancer | / 19卷
关键词
HBOC; Genetic testing; Pathogenic germline mutations; NGS; FFPE tissue; Targeted capture-based NGS; CNV detection;
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