RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary.
J Pathol
; 229(3): 469-76, 2013 Feb.
Article
em En
| MEDLINE
| ID: mdl-23096461
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 predicted to be deleterious by in silico analysis. Six tumours had allelic imbalance at the RNF43 locus, with loss of the wild-type allele. The mutation spectrum strongly suggests that RNF43 is an important tumour suppressor gene in mucinous ovarian tumours, similar to its reported role in mucinous pancreatic precancerous cysts.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Ovarianas
/
Genes Supressores de Tumor
/
Proteínas Oncogênicas
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Cistadenoma Mucinoso
/
Adenocarcinoma Mucinoso
/
Proteínas de Ligação a DNA
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
J Pathol
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Austrália