Research Papers:

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

Cindy Badoer, Céline Garrec, Dirk Goossens, Gillian Ellison, John Mills, Mélina Dzial, Hakim El Housni, Sarah Berwouts, Paola Concolino, Virginie Guibert-Le Guevellou, Capucine Delnatte, Jurgen Del Favero, Ettore Capoluongo and Stéphane Bézieau _

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Oncotarget. 2016; 7:81357-81366. https://doi.org/10.18632/oncotarget.12877

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Cindy Badoer1, Céline Garrec2, Dirk Goossens3, Gillian Ellison4, John Mills4, Mélina Dzial1, Hakim El Housni1, Sarah Berwouts3, Paola Concolino5, Virginie Guibert-Le Guevellou2, Capucine Delnatte2, Jurgen Del Favero3, Ettore Capoluongo5,6,*, Stéphane Bézieau2,*

1Laboratoire de Génétique Moléculaire, Clinique Universitaire de Bruxelles-Hôpital Erasme-Université Libre de Bruxelles (CUB-Erasme-ULB), Brussels, Belgium

2Institut de Biologie, Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Nantes, Nantes, France

3Multiplicom N.V., Niel, Belgium

4AstraZeneca, Personalised Healthcare and Biomarkers, Alderley Park, Macclesfield, UK

5Laboratory of Clinical Molecular and Personalized Diagnostics, Foundation Policlinico Gemelli and Catholic University of Rome, Italy

6Molipharma and Giovanni Paolo II Foundation, Campobasso, Italy

*Shared last authors

Correspondence to:

Stéphane Bézieau, email: [email protected]

Ettore Capoluongo, email: [email protected]

Keywords: BRCA1-BRCA2, next generation sequencing, fresh frozen tumors, ovarian carcinoma, olaparib

Received: July 16, 2016    Accepted: September 08, 2016    Published: October 25, 2016


Next-generation sequencing (NGS) has enabled new approaches for detection of mutations in the BRCA1 and BRCA2 genes responsible for hereditary breast and ovarian cancer (HBOC). The search for germline mutations in the BRCA1 and BRCA2 genes is of importance with respect to oncogenetic and surgical (bilateral mastectomy, ovariectomy) counselling. Testing tumor material for BRCA mutations is of increasing importance for therapeutic decision making as the poly ADP ribose polymerase (PARP) inhibitor, olaparib, is now available to treat patients with specific forms of ovarian cancer and BRCA mutations. Molecular genetics laboratories should develop reliable and sensitive techniques for the complete analysis of the BRCA1 and BRCA2 genes. This is a challenge due to the size of the coding sequence of the BRCA1/2 genes, the absence of hot spot mutations, and particularly by the lower DNA quality obtained from Formalin-Fixed Paraffin-Embedded (FFPE) tissue. As a result, a number of analyses are uninterpretable and do not always provide a result to the clinician, limiting the optimal therapeutic management of patients. The availability of Fresh Frozen Tissue (FFT) for some laboratories and the excellent quality of the DNA extracted from it offers an alternative. For this reason, we evaluated Multiplicom’s BRCA MASTR Dx assay on a set of 97 FFT derived DNA samples, in combination with the MID for Illumina MiSeq for BRCA1 and BRCA2 mutation detection. We obtained interpretable NGS results for all tested samples and showed > 99,7% sensitivity, specificity and accuracy.

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