Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

Background Determination of mutation status of BRCA1 and BRCA2 has become part of the clinical routine. However, the spectrum of genetic variants differs between populations. The aim of this study was to deliver a comprehensive description of all detected variants. Methods In families fulfilling one...

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Veröffentlicht in:	Archives of gynecology and obstetrics 2017-05, Vol.295 (5), p.1227-1238
Hauptverfasser:	Meisel, Cornelia, Sadowski, Carolin Eva, Kohlstedt, Daniela, Keller, Katja, Stäritz, Franziska, Grübling, Nannette, Becker, Kerstin, Mackenroth, Luisa, Rump, Andreas, Schröck, Evelin, Arnold, Norbert, Wimberger, Pauline, Kast, Karin
Format:	Artikel
Sprache:	eng
Schlagworte:	BRCA1 Protein - genetics BRCA2 Protein - genetics Breast cancer Breast Neoplasms - genetics Endocrinology Female Genes, BRCA1 Genes, BRCA2 Gynecologic Oncology Gynecology Human Genetics Humans Medicine Medicine & Public Health Mutation Obstetrics/Perinatology/Midwifery Ovarian Neoplasms - genetics
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