Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.R426C
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MUTYH

NM_001128425.2:p.R426C

Associated Papers

Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.

Mathó C et al.

Frontiers in Oncology, 2025

An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.

Szafron LA et al.

International Journal of Molecular Sciences, 2024

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.SNP_all_variants

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s004.xlsx › CI_Variants-Manual_Curation_

Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.

Xiao F et al.

Biomolecules, 2023

36979362 (PubMed )
Supplement: biomolecules-13-00429-s001.zip › Table_S1._Human_MUTYH_variants_used_in_the_study.xlsx › Sheet1

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

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

Georgeson P et al.

Nature Communications, 2022

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

Monoallelic deleterious MUTYH germline variants as a driver for tumorigenesis.

Barreiro RAS et al.

The Journal of Pathology, 2022

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

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

Rizzolo P et al.

Frontiers in Oncology, 2018

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

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

Ricci MT et al.

Journal of Human Genetics, 2017

Clinical and molecular features of attenuated adenomatous polyposis in northern Italy.

de Leon MP et al.

Techniques in Coloproctology, 2013

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

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

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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."