Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.G11D
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MUTYH

NM_001048174.2:p.G11D

Associated Papers

Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.

Akay S et al.

Genes, 2025

41595443 (PubMed )
Supplement: genes-17-00023-s001.zip › genes-4057373-supplementary.pdf

Genetic predisposition to polyposis syndromes.

García-Simón N et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2025

Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.

Li S et al.

Journal of Advanced Research, 2025

40436141 (PubMed )
Supplement: 1-s2.0-S2090123225003625-mmc2.xlsx › Table_S4

Saturation mapping of MUTYH variant effects using DNA repair reporters.

Hemker SL et al.

Biorxiv : the Preprint Server for Biology, 2025

40093110 (PubMed )
Supplement: media-2.xlsx › v5k3_allsnvs_with_splice_pop_cl

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans.

Park JE et al.

Annals of Laboratory Medicine, 2025

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_6.XLSX › 628_all_list_group_2

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

Zhang XW et al.

World Journal of Clinical Cases, 2022

Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.

Georgeson P et al.

Nature Communications, 2022

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.

Lam KK et al.

Genes, Chromosomes & Cancer, 2021

MUTYH: Not just polyposis.

Curia MC et al.

World Journal of Clinical Oncology, 2020

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

Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.

Yamaguchi K et al.

Journal of Human Genetics, 2019

The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Brovkina OI et al.

Frontiers in Oncology, 2018

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Mutation analysis of MUTYH in Japanese colorectal adenomatous polyposis patients.

Taki K et al.

Familial Cancer, 2016

Alterations of the base excision repair gene MUTYH in sporadic colorectal cancer.

Kuno T et al.

Oncology Reports, 2012

MUTYH-associated polyposis (MAP).

Nielsen M et al.

Critical Reviews in Oncology/hematology, 2011

DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis.

Oka S et al.

Cancer Science, 2011

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

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

Nielsen M et al.

Nederlands Tijdschrift Voor Geneeskunde, 2005

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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."