Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.R463C
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AXIN2

NM_004655.4:p.R463C

Associated Papers

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

Aceves-Ewing NM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.

Broekema MF et al.

Hereditary Cancer in Clinical Practice, 2023

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Leclerc J et al.

Genes, Chromosomes & Cancer, 2023

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Chan JM et al.

Familial Cancer, 2022

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Jensen JM et al.

Familial Cancer, 2022

Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.

Macklin-Mantia SK et al.

Bmc Medical Genetics, 2020

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Beard C et al.

Familial Cancer, 2019

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.

Gupta S et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

AXIN1 and AXIN2 variants in gastrointestinal cancers.

Mazzoni SM et al.

Cancer Letters, 2014

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia.

Rivera B et al.

European Journal of Human Genetics : Ejhg, 2014

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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."