|
ovarian neoplasm
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
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.
|
23096461 |
2013 |
|
ovarian neoplasm
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
RNF43 mutations are recurrent in Chinese patients with mucinous ovarian carcinoma but absent in other subtypes of ovarian cancer.
|
24001777 |
2013 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
RNF43 mutations were found in 9 of 24 (37.5%) Lynch syndrome colorectal cancers.
|
28573495 |
2018 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC.
|
30862463 |
2019 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A new study suggests that RNF43 is one of the most commonly mutated genes in endometrial and colorectal cancers and may help identify patients who could potentially benefit from drugs that target the Wnt signaling pathway.
|
25583782 |
2015 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Frequent frameshift mutations in 2 mononucleotide repeats of RNF43 gene and its regional heterogeneity in gastric and colorectal cancers.
|
26297255 |
2015 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four novel RNF43 mutations (including G659 and R117 sites) were validated in 177 CRC patients; all events were somatic frameshift mutations.
|
31140864 |
2019 |
|
Colorectal Carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The frequency of RNF43 mutation was significantly higher in traditional serrated adenoma with or without cytologic dysplasia and BRAF-mutated/microsatellite-stable colorectal carcinoma than sessile serrated adenoma.
|
27305845 |
2016 |
|
Colorectal Neoplasms
|
0.330 |
GeneticVariation
|
group |
BEFREE |
To investigate the pathogenetic role of RNF43 in the serrated pathway, we conducted mutation analysis of RNF43 in several types of colorectal neoplasms.
|
27305845 |
2016 |
|
Pancreatic Neoplasm
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Corrigendum: Genome-wide CRISPR screens reveal a Wnt-FZD5 signaling circuit as a druggable vulnerability of RNF43-mutant pancreatic tumors.
|
29117169 |
2017 |
|
Pancreatic Neoplasm
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide CRISPR screens reveal a Wnt-FZD5 signaling circuit as a druggable vulnerability of RNF43-mutant pancreatic tumors.
|
27869803 |
2017 |
|
Pancreatic Neoplasm
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Ubiquitin E3 ligase ring finger 43 (RNF43) has been suggested as a negative regulator of Wnt signaling, and mutations of RNF43 have been identified in various tumors, including cystic pancreatic tumors.
|
23847203 |
2013 |
|
Endometrial Carcinoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that RNF43 is one of the most commonly mutated genes in colorectal and endometrial cancers.
|
25344691 |
2014 |
|
Endometrial Carcinoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Recent studies identified that RNF43 gene was frequently mutated in gastric (GC), colorectal (CRC), and endometrial cancers with high microsatellite instability (MSI-H).
|
26297255 |
2015 |
|
Ovarian Carcinoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the absence of RNF43 mutations in other subtypes of ovarian carcinoma implicated that RNF43 mutations might not be actively involved in the pathogenesis of these disorders.
|
24001777 |
2013 |
|
Intrahepatic Cholangiocarcinoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
RNF43 reduced expression in ICC, and the reduction of RNF43 messenger RNA expression was significantly correlated with the presence of rs2257205 and RNF43 somatic mutations, confirming that all RNF43 somatic mutations in ICC are inactivating.
|
26980022 |
2016 |
|
Malignant neoplasm of pancreas
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
PORCN inhibitors show efficacy in preclinical models of Wnt-addicted cancers, including RNF43-mutant pancreatic cancers and have advanced to clinical trials.
|
31391551 |
2019 |
|
Malignant neoplasm of ovary
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the absence of RNF43 mutations in other subtypes of ovarian carcinoma implicated that RNF43 mutations might not be actively involved in the pathogenesis of these disorders.
|
24001777 |
2013 |
|
Hyperplastic polyposis syndrome
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC.
|
30862463 |
2019 |
|
Adenocarcinoma of pancreas
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
LGK974 inhibited proliferation and induced differentiation of RNF43-mutant pancreatic adenocarcinoma xenograft models.
|
23847203 |
2013 |
|
Polyp of large intestine
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the RNF43 gene locus with pyrosequencing technology detected RNF43 hotspot mutations in one (0.88%) of 113 colorectal polyp cases and in 30 (6.45%) of 465 colorectal cancer cases.
|
29756208 |
2018 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Six of the eight IPMNs and three of the eight MCNs harbored mutations of RNF43, a gene coding for a protein with intrinsic E3 ubiquitin ligase activity that has not previously been found to be genetically altered in any human cancer.
|
22158988 |
2011 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Additionally, mutations in protein phosphatase 2 regulatory subunit α (PPP2R1A), ring finger protein 43 (RNF43), DNA directed polymerase ε (POLE1), ribonuclease type III (DICER1), CCCTC‑binding factor (CTCF), ribosomal protein L22 (RPL22), DNA methyltransferase 3α (DNMT3A), transformation/transcription domain‑associated protein (TRRAP), isocitrate dehydrogenase (IDH)1 and IDH2 were not detected in ovarian mixed germ cell tumors, implicating these genetic alterations may be not associated with MAPK1 mutation in the development of this malignancy.
|
26548627 |
2016 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, loss of function study of RNF43 in cell culture has not been conducted, and the functional significance of RNF43 mutations in cancer is unknown.
|
23847203 |
2013 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In one out of four serrated polyposis families, we identified a germline RNF43 mutation that displayed autosomal dominant cosegregation with the serrated polyposis phenotype, along with second-hit inactivation through loss of heterozygosity or somatic mutations in all serrated polyps (16), adenomas (5) and cancer (1) examined, as well as coincidental BRAF mutation in 62.5% of the serrated polyps.
|
27329244 |
2017 |