NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

doi:10.1007/s00428-016-1919-8

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NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

Virchows Archiv : an international journal of pathology - 1 Jun 2016

Endris Volker, Stenzinger Albrecht, Pfarr Nicole, Penzel Roland, Möbs Markus, Lenze Dido, Darb-Esfahani Silvia, Hummel Michael, Sabine-Merkelbach-Bruse, Jung Andreas, Lehmann Ulrich, Kreipe Hans, Kirchner Thomas, Büttner Reinhard, Jochum Wolfram, Höfler Gerald, Dietel Manfred, Weichert Wilko, Schirmacher Peter

Abstract excerpt

With the approval of olaparib as monotherapy treatment in platinum-sensitive, relapsed high-grade serous ovarian cancer by the European Medical Agency (EMA), comprehensive genotyping of BRCA1 and BRCA2 in tumor tissue has become a mandatory pre-therapeutic test. This requires significant advances in routine tumor test methodologies due to the large size of both genes and the lack of mutational hot spots....

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PMID: 27003155
DOI: 10.1007/s00428-016-1919-8

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BRCA1
BRCA2

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