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

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 and Ian G. Campbell ()
Additional contact information
Deepak N. Subramanian: Peter MacCallum Cancer Centre
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
Na Li: Peter MacCallum Cancer Centre
Kylie L. Gorringe: The University of Melbourne
Paul A. James: Peter MacCallum Cancer Centre
Ian G. Campbell: Peter MacCallum Cancer Centre

Nature Communications, 2020, vol. 11, issue 1, 1-11

Abstract: 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

Date: 2020
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DOI: 10.1038/s41467-020-15461-z

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