My note on paper: RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary

Paper: RNF43 is a tumor suppressor gene mutated in mucinous tumors of the ovary
(doi: 10.1002/path.4134)

Abstract;
Focus on mucinous carcinomas in ovary (hard to treat by conventional therapy-platinum based)

Gap:
Genetic of mucinous type in ovarian tumor is unk

Procedure:
Exome sequencing 12 mucinous ovarian tumors

Finding:
frequently somatic mutation (high to low)
1.KRAS
2.RNF43 = TP53 and BRAF

Look more details:
Ovarian tumor in mucinous (benign) -- 2/22 (9%)
Mucinous ovarian carcinoma -- 6/29 (21%)

Type of mutations and changes in RNF43:
1. Truncated
2. Missense (causing lost function)
3. Lost of WT allele

In conclusion evident suggested:
RNF43 acts as tumor suppressor (first report to propose this role)  in
1. mucinous ovarian tumor
2. mucinous pancreatic precancerous cyst

Increasing of mutation frequency of RNF43 would be used as transitional marker from borderline to cancerous state in mucinous ovarian cancer.

Intro part:
evident support RNF43 might be tumor suppressor
*mutation in RNF43 cause malfunction in
**neoplastic pancreatic cysts; intraductal paillary mucinous neoplasms (IPMNs) and mucinous cystic neoplasm (MCN)

Method:
Two hospitals
51 patients
---
12 - Exome sequence
*3 border line
*9 carcinomas
39 RNF43-targeted sequence
*19 border line
*20 carcinomas

ID for RNF43:
Transcript -- NM_017763.4
Protein -- NP_060233.3
HGVS -http://varnomen.hgvs.org/
The Human Splicing Finder (HSF) v 2.4.1 -- http://www.umd.be/HSF/ (newer version;http://www.umd.be/HSF3/)

In silico missens variants:
PolyPhen-2 -- http://genetics.bwh.harvard.edu/pph2/index.shtml
PMUT -- http://mmb2.pcb.ub.es:8080/PMut/
MutPred -- http://mutpred.mutdb.org/
MutationTaster -- http://www.mutationtaster.org/)
SNPs&Go -- http://snpsand-go.biocomp.unibo.it/snps-and-go/

Gap:
Ubiquitinylation of RNF43 can play role in the tumor suppressive role.

showing the mutation location in RNF43 that have been found in mucinous tumor of ovary