Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R117fs
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RNF43

NM_017763.6:p.R117fs

Associated Papers

STT3A is essential for Wnt signaling and represents a target for cancers driven by RNF43 deficiency.

He Z et al.

Cell Chemical Biology, 2025

Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Kageyama S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Generative prediction of causal gene sets responsible for complex traits.

Kuznets-Speck B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40504147 (PubMed )
Supplement: pnas.2415071122.sd01.xlsx › Metadata_Table

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Wallen ZD et al.

Frontiers in Genetics, 2025

40385986 (PubMed )
Supplement: Supplementaryfile1.xlsx › Supplementary_Table_3

RNF43 and ZNRF3: Versatile regulators at the membrane and their role in cancer.

Li S et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2024

RNF43 in cancer: Molecular understanding and clinical significance in immunotherapy.

Huo X et al.

The Journal of Gene Medicine, 2024

New Target(s) for RNF43 Regulation: Implications for Therapeutic Strategies.

Nag JK et al.

International Journal of Molecular Sciences, 2024

Integrative Molecular Analyses of the MD Anderson Prostate Cancer Patient-derived Xenograft (MDA PCa PDX) Series.

Anselmino N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38488813 (PubMed )
Supplement: ccr-23-2438_supplementary_table_s5_suppts5.pdf

New insights in ubiquitin-dependent Wnt receptor regulation in tumorigenesis.

Tsukiyama T

In Vitro Cellular & Developmental Biology. Animal, 2024

Mucin phenotype and genetic alterations in non-V600E BRAF-mutated colorectal cancer.

Ozeki H et al.

Human Pathology, 2024

Clinical and molecular characteristics of RNF43 mutations as promising prognostic biomarkers in colorectal cancer.

Huang ZY et al.

Therapeutic Advances in Medical Oncology, 2024

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_3.xlsx › Table_S3

Case report: Microsatellite instability determination is not always black and white in Lynch syndrome diagnosis.

Rodriguez JE et al.

Frontiers in Oncology, 2024

Somatic mutations can induce a noninflamed tumour microenvironment via their original gene functions, despite deriving neoantigens.

Ishino T et al.

British Journal of Cancer, 2023

RNF43 mutation as a predictor of immunotherapeutic efficacy in colorectal cancer.

Huang K et al.

American Journal of Cancer Research, 2023

An expression-based variant impact phenotyping protocol to predict the impact of gene variants in cell lines.

Thornton AM et al.

Star Protocols, 2022

RNF43 G659fs is an oncogenic colorectal cancer mutation and sensitizes tumor cells to PI3K/mTOR inhibition.

Fang L et al.

Nature Communications, 2022

The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

Bleijenberg AG et al.

The Journal of Pathology, 2022

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Comprehensive Analysis of R-Spondin Fusions and RNF43 Mutations Implicate Novel Therapeutic Options in Colorectal Cancer.

Seeber A et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

RNF43 R117fs mutant positively regulates Wnt/β-catenin signaling by failing to internalize FZD expressed on the cell surface.

Cho AR et al.

Scientific Reports, 2022

Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

Mohd Yunos RI et al.

Frontiers in Molecular Biosciences, 2022

eVIP2: Expression-based variant impact phenotyping to predict the function of gene variants.

Thornton AM et al.

Plos Computational Biology, 2021

RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps.

van Herwaarden YJ et al.

Histopathology, 2021

The Functional Landscape of Patient-Derived RNF43 Mutations Predicts Sensitivity to Wnt Inhibition.

Yu J et al.

Cancer Research, 2020

Next-generation sequencing reveals heterogeneous genetic alterations in key signaling pathways of mismatch repair deficient colorectal carcinomas.

Wang J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

[A Case of High-Frequency Microsatellite Instability in Colorectal Cancer with MSH2 Mutation Detected Using Gene Panel Testing with a Next-Generation Sequencer].

Shimada Y et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2020

RNF43 mutation is associated with aggressive tumor biology along with BRAF V600E mutation in right-sided colorectal cancer.

Matsumoto A et al.

Oncology Reports, 2020

Commonly observed RNF43 mutations retain functionality in attenuating Wnt/β-catenin signaling and unlikely confer Wnt-dependency onto colorectal cancers.

Li S et al.

Oncogene, 2020

Actionable Potentials of Less Frequently Mutated Genes in Colorectal Cancer and Their Roles in Precision Medicine.

Mohd Yunos RI et al.

Biomolecules, 2020

Significance of gene mutations in the Wnt signaling pathway in traditional serrated adenomas of the colon and rectum.

Nakanishi H et al.

Plos One, 2020

RNF43 frameshift mutations contribute to tumourigenesis in right-sided colon cancer.

Lai C et al.

Pathology, Research and Practice, 2019

Reduced Frequency and Prognostic Significance of Ring Finger Protein 43 Nucleotide Polymorphisms in a Chinese Colorectal Cancer Cohort.

Wen D et al.

Dna and Cell Biology, 2019

Impact of loss-of-function mutations at the RNF43 locus on colorectal cancer development and progression.

Eto T et al.

The Journal of Pathology, 2018

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Rnf43.

Serra S et al.

Journal of Clinical Pathology, 2018

RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation.

Yan HHN et al.

Gut, 2017

WNT Pathway Gene Mutations Are Associated With the Presence of Dysplasia in Colorectal Sessile Serrated Adenoma/Polyps.

Hashimoto T et al.

The American Journal of Surgical Pathology, 2017

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

RNF43 mutation frequently occurs with GNAS mutation and mucin hypersecretion in intraductal papillary neoplasms of the bile duct.

Tsai JH et al.

Histopathology, 2017

Blocking Wnt Secretion Reduces Growth of Hepatocellular Carcinoma Cell Lines Mostly Independent of β-Catenin Signaling.

Wang W et al.

Neoplasia (new York, N.y.), 2016

Dysregulated Wnt signalling and recurrent mutations of the tumour suppressor RNF43 in early gastric carcinogenesis.

Min BH et al.

The Journal of Pathology, 2016

Control of Wnt Receptor Turnover by R-spondin-ZNRF3/RNF43 Signaling Module and Its Dysregulation in Cancer.

Hao HX et al.

Cancers, 2016

Frequent PTPRK-RSPO3 fusions and RNF43 mutations in colorectal traditional serrated adenoma.

Sekine S et al.

The Journal of Pathology, 2016

GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma.

Tan MC et al.

Journal of the American College of Surgeons, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."