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A high-throughput functional complementation assay for classification of BRCA1 missense variants

Peter Bouwman, Hanneke van der Gulden, Ingrid van der Heijden, Rinske Drost, Christiaan N. Klijn, Pramudita Prasetyanti, Mark Pieterse, Ellen Wientjens, Jost Seibler, Frans B.L. Hogervorst and Jos Jonkers
Peter Bouwman
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Hanneke van der Gulden
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Ingrid van der Heijden
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Rinske Drost
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Christiaan N. Klijn
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Pramudita Prasetyanti
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Mark Pieterse
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Ellen Wientjens
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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Jost Seibler
TaconicArtemis GmbH
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Frans B.L. Hogervorst
Pathology, The Netherlands Cancer Institute
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Jos Jonkers
Division of Molecular Pathology and Cancer Genomics Centre, The Netherlands Cancer Institute
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  • For correspondence: j.jonkers@nki.nl
DOI: 10.1158/2159-8290.CD-13-0094
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Abstract

Mutations in BRCA1 and BRCA2 account for the majority of hereditary breast and ovarian cancers, and therefore sequence analysis of both genes is routinely performed in patients with early-onset breast cancer. Besides mutations that clearly abolish protein function or are known to increase cancer risk, a large number of sequence variants of uncertain significance (VUS) have been identified. Although several functional assays for BRCA1 VUS have been described, thus far it has not been possible to perform a high-throughput analysis in the context of the full-length protein. We have developed a relatively fast and easy cDNA-based functional assay to classify BRCA1 VUS based on their ability to functionally complement BRCA1-deficient mouse embryonic stem cells. Using this assay we have analyzed 74 unclassified BRCA1 missense mutants, of which all predicted pathogenic variants are confined to the BRCA1 RING and BRCT domains.

  • Received March 5, 2013.
  • Revision received June 20, 2013.
  • Accepted June 20, 2013.
  • Copyright © 2013, American Association for Cancer Research.
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Published OnlineFirst July 23, 2013
doi: 10.1158/2159-8290.CD-13-0094

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A high-throughput functional complementation assay for classification of BRCA1 missense variants
Peter Bouwman, Hanneke van der Gulden, Ingrid van der Heijden, Rinske Drost, Christiaan N. Klijn, Pramudita Prasetyanti, Mark Pieterse, Ellen Wientjens, Jost Seibler, Frans B.L. Hogervorst and Jos Jonkers
Cancer Discov July 23 2013 DOI: 10.1158/2159-8290.CD-13-0094

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A high-throughput functional complementation assay for classification of BRCA1 missense variants
Peter Bouwman, Hanneke van der Gulden, Ingrid van der Heijden, Rinske Drost, Christiaan N. Klijn, Pramudita Prasetyanti, Mark Pieterse, Ellen Wientjens, Jost Seibler, Frans B.L. Hogervorst and Jos Jonkers
Cancer Discov July 23 2013 DOI: 10.1158/2159-8290.CD-13-0094
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Cancer Discovery
eISSN: 2159-8290
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