Varaico: Literature-Extracted Genetic Variants

Gene:RNF43
Variant:p.L418M
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RNF43

NM_017763.6:p.L418M

Associated Papers

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

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

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.

Turnham DJ et al.

Cells, 2024

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.

Huang YT et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2024

38424547 (PubMed )
Supplement: 13046_2024_2987_MOESM2_ESM.xlsx › Table_S1

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Characterization of RNF43 frameshift mutations that drive Wnt ligand- and R-spondin-dependent colon cancer.

Yamamoto D et al.

The Journal of Pathology, 2022

Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.

Kerle IA et al.

Cancers, 2022

35326522 (PubMed )
Supplement: cancers-14-01371-s001.zip › Supplemental_Table_S1_-_Mutations_identified_by_targeted_sequencing_of_plasma_DNA.xlsx › Supplemental_Table_1

RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.

Belenguer G et al.

Nature Communications, 2022

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Klemke L et al.

Frontiers in Oncology, 2021

34178628 (PubMed )
Supplement: DataSheet_1.pdf

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

Yu J et al.

Cancer Research, 2020

A phospho-switch controls RNF43-mediated degradation of Wnt receptors to suppress tumorigenesis.

Tsukiyama T et al.

Nature Communications, 2020

Genetic Tracing of Clonal Expansion and Progression of Pancreatic Ductal Adenocarcinoma: A Case Report and Multi-Region Sequencing Analysis.

Tachibana S et al.

Frontiers in Oncology, 2020

32582528 (PubMed )
Supplement: Table_1.XLSX › a_distal_bile_duct_PDA

Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Fischer CG et al.

Gastroenterology, 2019

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

31015309 (PubMed )
Supplement: 15357163mct181247-sup-211489_2_supp_5355372_pn7d76.pdf

Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3/phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude.

Gesang L et al.

Disease Markers, 2019

31827636 (PubMed )
Supplement: 5946461.f1.xlsx › Supplementary_Table_S1

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

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s006.xlsx › Validation_Mutations

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

30286143 (PubMed )
Supplement: pone.0205022.s007.xlsx › Sheet1

Establishment and Characterization of a Novel Cell Line, ASAN-PaCa, Derived From Human Adenocarcinoma Arising in Intraductal Papillary Mucinous Neoplasm of the Pancreas.

Heller A et al.

Pancreas, 2016

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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."