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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

Author

Listed:
  • Deepak N. Subramanian

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Magnus Zethoven

    (Peter MacCallum Cancer Centre)

  • Simone McInerny

    (Peter MacCallum Cancer Centre and The Royal Melbourne Hospital)

  • James A. Morgan

    (Peter MacCallum Cancer Centre and The Royal Melbourne Hospital)

  • Simone M. Rowley

    (Peter MacCallum Cancer Centre)

  • Jue Er Amanda Lee

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Na Li

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

  • Kylie L. Gorringe

    (The University of Melbourne)

  • Paul A. James

    (Peter MacCallum Cancer Centre
    The University of Melbourne
    Peter MacCallum Cancer Centre and The Royal Melbourne Hospital)

  • Ian G. Campbell

    (Peter MacCallum Cancer Centre
    The University of Melbourne)

Abstract

High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequencing data from 516 BRCA1/2-negative women with HGSOC, focusing on genes enriched with rare, protein-coding loss-of-function (LoF) variants. Overall, there is a significant enrichment of rare protein-coding LoF variants in the cases (p

Suggested Citation

  • Deepak N. Subramanian & Magnus Zethoven & Simone McInerny & James A. Morgan & Simone M. Rowley & Jue Er Amanda Lee & Na Li & Kylie L. Gorringe & Paul A. James & Ian G. Campbell, 2020. "Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes," Nature Communications, Nature, vol. 11(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-15461-z
    DOI: 10.1038/s41467-020-15461-z
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    Cited by:

    1. Cemal Erdem & Sean M. Gross & Laura M. Heiser & Marc R. Birtwistle, 2023. "MOBILE pipeline enables identification of context-specific networks and regulatory mechanisms," Nature Communications, Nature, vol. 14(1), pages 1-16, December.

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