Varaico: Literature-Extracted Genetic Variants

Gene:FBXW7
Variant:p.R224*
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FBXW7

NM_001349798.2:p.R224*

Associated Papers

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Saito Y et al.

Journal of Human Genetics, 2025

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor.

Meier-Abt F et al.

American Journal of Medical Genetics. Part A, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors.

Kim M et al.

Cancer Research and Treatment, 2023

Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.

Flanagan DJ et al.

Nature Communications, 2022

36477656 (PubMed )
Supplement: 41467_2022_35134_MOESM4_ESM.xlsx › Figure_1c

Global and context-specific transcriptional consequences of oncogenic Fbw7 mutations.

Thirimanne HN et al.

Elife, 2022

35225231 (PubMed )
Supplement: elife-74338-fig5-data2.xlsx › Fbw7_Mutant

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Sun D et al.

Frontiers in Oncology, 2022

36425562 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Increased somatic mutation burdens in normal human cells due to defective DNA polymerases.

Robinson PS et al.

Nature Genetics, 2021

34594041 (PubMed )
Supplement: 41588_2021_930_MOESM3_ESM.xlsx › Supplementary_Table_3

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.

Lee SE et al.

International Journal of Molecular Sciences, 2021

34074070 (PubMed )
Supplement: ijms-22-05561-s001.zip › ijms-1205781-supplementary.xlsx › Table_S1

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

Identification of new Wilms tumour predisposition genes: an exome sequencing study.

Mahamdallie S et al.

The Lancet. Child & Adolescent Health, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

FBXW7 deletion contributes to lung tumor development and confers resistance to gefitinib therapy.

Xiao Y et al.

Molecular Oncology, 2018

29633504 (PubMed )
Supplement: MOL2-12-883-s002.xlsx › Sheet1

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

28522256 (PubMed )
Supplement: NIHMS1058936-supplement-Table_S3.xlsx › VCF

Next-Generation Sequencing.

Le Gallo M et al.

Advances in Experimental Medicine and Biology, 2017

FBXW7/hCDC4 is a general tumor suppressor in human cancer.

Akhoondi S et al.

Cancer Research, 2007

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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."