RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary. Issue 3 (25th January 2013)

• Record Type: Journal Article
• Authors: Ryland, Georgina L; Hunter, Sally M; Doyle, Maria A; Rowley, Simone M; Christie, Michael; Allan, Prue E; Bowtell, David DL; Gorringe, Kylie L; Campbell, Ian G
• Is Part Of: Journal of pathology. Volume 229:Issue 3(2013)
• Page Start: 469
• Page End: 476
• Publication Date: 2013-01-25
• Subjects: Pathology -- Periodicals; 616.07
• DOI: 10.1002/path.4134
• Languages: English
• ISSNs: 0022-3417

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p> <bold>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 <italic> RNF43</italic> as the most frequently somatically mutated novel gene, secondary to <italic> KRAS</italic> and mutated at a frequency equal to that of <italic> TP53</italic> and <italic> BRAF</italic>. Further screening of <italic> RNF43</italic> 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 predicted to be deleterious by <italic>in silico</italic> analysis. Six tumours had allelic imbalance at the <italic> RNF43</italic> locus, with loss of the wild‐type allele. The mutation spectrum strongly suggests that <italic> RNF43</italic> is an important tumour suppressor gene in mucinous ovarian tumours, similar to its reported role in mucinous pancreatic precancerous cysts. Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.</bold> </p> </abstract>