Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.R113*
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RNF43

NM_017763.6:p.R113*

Associated Papers

Clinicopathologic and Molecular Features of Tubo-Ovarian Carcinosarcomas with an Emphasis on p53 Wild-Type, KRAS-Mutated Tumors.

Hammer PM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2026

Genetic predisposition to polyposis syndromes.

García-Simón N et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

Brinch HH et al.

Familial Cancer, 2024

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_het

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

35143042 (PubMed )
Supplement: PATH-257-239-s001.xlsx › all_driver_genes_15-4-2020

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact.

Alquati C et al.

Cancers, 2021

The Inherited and Familial Component of Early-Onset Colorectal Cancer.

Daca Alvarez M et al.

Cells, 2021

High prevalence of TP53 loss and whole-genome doubling in early-onset colorectal cancer.

Kim JE et al.

Experimental & Molecular Medicine, 2021

33753878 (PubMed )
Supplement: 12276_2021_583_MOESM1_ESM.zip › 210226_BJX6JPRP_EMM2020836R_Supplelemtary_table_merged__1_.xls › Supplementary_Table_3

Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Zhang S et al.

Frontiers in Oncology, 2021

34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5

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

Hereditary or Not? Understanding Serrated Polyposis Syndrome.

Stanich PP et al.

Current Treatment Options in Gastroenterology, 2019

Update on genetic predisposition to colorectal cancer and polyposis.

Valle L et al.

Molecular Aspects of Medicine, 2019

Acquisition of WNT Pathway Gene Alterations Coincides With the Transition From Precursor Polyps to Traditional Serrated Adenomas.

Hashimoto T et al.

The American Journal of Surgical Pathology, 2019

Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.

Quintana I et al.

Gut, 2018

Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing.

Lorans M et al.

Clinical Colorectal Cancer, 2018

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 › Rectum

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

Yan HHN et al.

Gut, 2017

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

Buchanan DD et al.

Gut, 2017

Genetic analyses of isolated high-grade pancreatic intraepithelial neoplasia (HG-PanIN) reveal paucity of alterations in TP53 and SMAD4.

Hosoda W et al.

The Journal of Pathology, 2017

Ring finger protein 43 expression is associated with genetic alteration status and poor prognosis among patients with intrahepatic cholangiocarcinoma.

Talabnin C et al.

Human Pathology, 2016

A deleterious RNF43 germline mutation in a severely affected serrated polyposis kindred.

Taupin D et al.

Human Genome Variation, 2015

Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.

Gala MK et al.

Gastroenterology, 2014

Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways.

Wu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Epidermal growth factor receptor-activating mutation(E746_T751>VP) in pancreatic ductal adenocarcinoma responds to erlotinib, followed by epidermal growth factor receptor resistance-mediating mutation (A647T): A case report and literature review.

Patel GK et al.

Journal of Cancer Research and Therapeutics, 0

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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."