Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.V22M
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MUTYH

NM_001128425.2:p.V22M

Associated Papers

Saturation mapping of MUTYH variant effects using DNA repair reporters.

Hemker SL et al.

American Journal of Human Genetics, 2025

Saturation mapping of MUTYH variant effects using DNA repair reporters.

Hemker SL et al.

Biorxiv : the Preprint Server for Biology, 2025

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 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

Oxidative Damage in Sporadic Colorectal Cancer: Molecular Mapping of Base Excision Repair Glycosylases MUTYH and hOGG1 in Colorectal Cancer Patients.

Kavec MJ et al.

International Journal of Molecular Sciences, 2022

MUTYH: Not just polyposis.

Curia MC et al.

World Journal of Clinical Oncology, 2020

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

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

Association of functional variants and protein-to-protein physical interactions of human MutY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome.

Abduljaleel Z et al.

Non-coding Rna Research, 2019

Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy

Mahasneh A et al.

Iranian Biomedical Journal, 2019

Association of the MUTYH Gln324His (CAG/CAC) variant with cervical carcinoma and HR-HPV infection in a Chinese population.

Chen H et al.

Medicine, 2019

Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Rizzolo P et al.

Frontiers in Oncology, 2018

Mutational heterogeneity in non-serous ovarian cancers.

Teer JK et al.

Scientific Reports, 2017

28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_9

Whole-genome landscape of pancreatic neuroendocrine tumours.

Scarpa A et al.

Nature, 2017

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.

Marabelli M et al.

Genetic Testing and Molecular Biomarkers, 2016

A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.

Van Allen EM et al.

Oncotarget, 2016

27167109 (PubMed )
Supplement: oncotarget-07-52888-s004.xlsx › SUMMARY-GERM_LINE

Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.

Kalbfleisch T et al.

F1000research, 2015

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

Castillejo A et al.

European Journal of Cancer (oxford, England : 1990), 2014

MUTYH-associated colorectal cancer and adenomatous polyposis.

Yamaguchi S et al.

Surgery Today, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility.

Picelli S et al.

Plos One, 2013

MUTYH gene variants and breast cancer in a Dutch case–control study.

Out AA et al.

Breast Cancer Research and Treatment, 2012

MUTYH hotspot mutations in unselected colonoscopy patients.

Casper M et al.

Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland, 2012

High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.

Tricarico R et al.

Bmc Cancer, 2011

MUTYH-associated polyposis (MAP).

Nielsen M et al.

Critical Reviews in Oncology/hematology, 2011

Prioritization of candidate SNPs in colon cancer using bioinformatics tools: an alternative approach for a cancer biologist.

George Priya Doss C et al.

Interdisciplinary Sciences, Computational Life Sciences, 2010

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

MUTYH Associated Polyposis (MAP).

Poulsen ML et al.

Current Genomics, 2008

MYH mutations are rare in prostate cancer.

Shin EJ et al.

Journal of Cancer Research and Clinical Oncology, 2007

Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.

Russell AM et al.

International Journal of Cancer, 2006

Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

Kanter-Smoler G et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2006

[From gene to disease; MutYH-associated polyposis coli (MAP)].

Nielsen M et al.

Nederlands Tijdschrift Voor Geneeskunde, 2005

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Alhopuro P et al.

Human Mutation, 2005

Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.

Fleischmann C et al.

International Journal of Cancer, 2004

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.

Sieber OM et al.

The New England Journal of Medicine, 2003

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_4.xlsx › Heatmap
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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."