RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

GL Ryland; SM Hunter; MA Doyle; SM Rowley; M Christie; PE Allan; DD Bowtell; KL Gorringe; IG Campbell

Journal article

RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

GL Ryland, SM Hunter, MA Doyle, SM Rowley, M Christie, PE Allan, DD Bowtell, KL Gorringe, IG Campbell

Journal of Pathology | Published : 2013

DOI: 10.1002/path.4134

Abstract

Mucinous carcinomas represent a distinct morphological subtype which can arise from several organ sites, including the ovary, and their genetic characteristics are largely under-described. Exome sequencing of 12 primary mucinous ovarian tumours identified RNF43 as the most frequently somatically mutated novel gene, secondary to KRAS and mutated at a frequency equal to that of TP53 and BRAF. Further screening of RNF43 in a larger cohort of ovarian tumours identified additional mutations, with a total frequency of 2/22 (9%) in mucinous ovarian borderline tumours and 6/29 (21%) in mucinous ovarian carcinomas. Seven mutations were predicted to truncate the protein and one missense mutation was p..

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University of Melbourne Researchers

Georgina L Ryland Author

Michael Christie Author

David Bowtell Author

Kylie Gorringe Author

Related Projects (2)

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Grants

Awarded by National Health and Medical Research Council of Australia (NHMRC)

Awarded by US Army Medical Research and Materiel Command

Awarded by Cancer Foundation of Western Australia and the NHMRC

Funding Acknowledgements

We gratefully acknowledge the cooperation of the institutions in Australia participating in the Australian Ovarian Cancer Study (AOCS). We also acknowledge the contribution of the AOCS study nurses, research assistants and all clinical and scientific collaborators and would like to thank all the women who participated in AOCS. Members of the Australian Ovarian Cancer Study Group, collaborators and hospitals involved in AOCS can be found at http://www.aocstudy.org. This study was supported by the Victorian Breast Cancer Research Consortium (VBCRC), the National Health and Medical Research Council of Australia (NHMRC; Grant No. ID 628733), the Victorian Government's Operational Infrastructure Support Programme and the Emer Casey Foundation. The AOCS was supported by the US Army Medical Research and Materiel Command (Grant No. DAMD17-01-1-0729), the Cancer Council Tasmania, the Cancer Foundation of Western Australia and the NHMRC (Grant No. ID 400413). GLR was supported by an Australian Postgraduate Award.