Varaico: Literature-Extracted Genetic Variants

Gene:AXIN2
Variant:p.P50S
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AXIN2

NM_004655.4:p.P50S

Associated Papers

A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome.

Zhang Y et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Regional Hereditary Cancer Program in Chile: A scalable model of genetic counseling and molecular diagnosis to improve clinical outcomes for patients with hereditary cancer across Latin America.

Landeros N et al.

Biological Research, 2024

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_MOESM14_ESM.xlsx › S14

Genetic Factors of Teeth Impaction: Polymorphic and Haplotype Variants of PAX9, MSX1, AXIN2, and IRF6 Genes.

Trybek G et al.

International Journal of Molecular Sciences, 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

36502525 (PubMed )
Supplement: GCC-62-210-s001.xlsx › AXIN2_variants

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Biedziak B et al.

Journal of Clinical Medicine, 2022

Microsatellite instability/mismatch repair deficiency and activation of the Wnt/β-catenin signaling pathway in gastric adenocarcinoma of the fundic gland: A case report.

Yang G

Medicine, 2022

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Hs746T

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM7_ESM.xlsx › Sheet1

Genotypes and Haplotypes in the AXIN2 and TCF7L2 Genes are Associated With Susceptibility and With Clinicopathological Characteristics in Breast Cancer Patients.

Rosales-Reynoso MA et al.

British Journal of Biomedical Science, 2022

Association of AXIN2 s2240308 C>T, rs1133683 C>T, rs7224837 A>G Polymorphisms with Susceptibility to Breast Cancer.

Sayad S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies.

Li X et al.

Bmc Cancer, 2021

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Significant Associations between AXIN1 rs1805105, rs12921862, rs370681 Haplotypes and Variant Genotypes of AXIN2 rs2240308 with Risk of Congenital Heart Defects.

Crauciuc GA et al.

International Journal of Environmental Research and Public Health, 2020

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Montazeri Z et al.

Gut, 2020

31818908 (PubMed )
Supplement: gutjnl-2019-319313supp002.pdf

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Characterizations of Gene Alterations in Melanoma Patients from Chinese Population.

Luo Y et al.

Biomed Research International, 2020

32083130 (PubMed )
Supplement: 6096814.f1.zip › 6096814.f1 › mat.6096814.v1.xlsx › Germline_mutation

Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Yang H et al.

Therapeutic Advances in Medical Oncology, 2020

The association between three AXIN2 variants and cancer risk.

Dai F et al.

Journal of Cellular Biochemistry, 2019

New insights into the association between AXIN2 148 C/T, 1365 C/T, and rs4791171 A/G variants and cancer risk.

Xu B et al.

Cancer Cell International, 2019

Variations in AXIN2 predict risk and prognosis of colorectal cancer.

Otero L et al.

Bdj Open, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Germline_true_positive

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis.

Williams MA et al.

Genes, 2018

Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case-series.

Haddaji Mastouri M et al.

European Journal of Oral Sciences, 2018

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

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

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Association study between genetic variations in Axin2 gene and lung cancer risk in North Indian population: A multiple interaction analysis.

Bahl C et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017

Nonsyndromic oligodontia : Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation?

Bock NC et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2017

AXIN2 Polymorphisms and Their Association with Colorectal Cancer in Mexican Patients.

Rosales-Reynoso MA et al.

Genetic Testing and Molecular Biomarkers, 2016

Genetic polymorphisms in the Wnt/β-catenin pathway genes as predictors of tumor development and survival in patients with hepatitis B virus-associated hepatocellular carcinoma.

Kim SS et al.

Clinical Biochemistry, 2016

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyB

Quantitative assessment of the association between AXIN2 rs2240308 polymorphism and cancer risk.

Gong J et al.

Scientific Reports, 2015

DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer.

Sabóia TM et al.

Archives of Oral Biology, 2015

AXIN2 rs2240308 polymorphism contributes to increased cancer risk: evidence based on a meta-analysis.

Wu Z et al.

Cancer Cell International, 2015

-148 C/T polymorphism of Axin2 contributes to a decreased risk of cancer: evidence from a meta-analysis.

Zhong A et al.

Oncotargets and Therapy, 2015

AXIN2 Polymorphisms, the β-Catenin Destruction Complex Expression Profile and Breast Cancer Susceptibility.

Aristizabal-Pachon AF et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2015

The Axin2 rs2240308 polymorphism and susceptibility to lung cancer in a Chinese population.

Liu D et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Significant association between the Axin2 rs2240308 single nucleotide polymorphism and the incidence of prostate cancer.

Ma C et al.

Oncology Letters, 2014

Colorectal cancer and self-reported tooth agenesis.

Lindor NM et al.

Hereditary Cancer in Clinical Practice, 2014

Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.

Mu YD et al.

Genetics and Molecular Research : Gmr, 2013

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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."