Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.A405V
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MUTYH

NM_001048174.2:p.A405V

Associated Papers

The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.

Moncado S et al.

Genes, 2025

Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.

Witt D et al.

Breast (edinburgh, Scotland), 2025

40403485 (PubMed )
Supplement: mmc2.xlsx › Actionable_findings

Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations.

McVeigh TP et al.

Journal of Medical Genetics, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_13

Increased KRAS G12C Prevalence, High Tumor Mutational Burden, and Specific Mutational Signatures Are Associated With MUTYH Mutations: A Pan-Cancer Analysis.

Disel U et al.

The Oncologist, 2024

37589222 (PubMed )
Supplement: oyad230_suppl_supplementary_tables.xlsx › Supplementary_Table_2

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze UK et al.

Genome Medicine, 2023

36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.

Feng H et al.

Translational Andrology and Urology, 2023

36915884 (PubMed )
Supplement: tau-12-02-308-supplementary.pdf

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S8._Germline_P_LP

The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Frostberg E et al.

Cancers, 2021

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

32090079 (PubMed )
Supplement: 3289023.f1.xlsx › Table_S4

Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Meng H et al.

Biomed Research International, 2020

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

Association of monoallelic MUTYH mutation among Egyptian patients with colorectal cancer.

Elsaid A et al.

Familial Cancer, 2017

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.

Leoz ML et al.

The Application of Clinical Genetics, 2015

Leiden Open Variation Database of the MUTYH gene.

Out AA et al.

Human Mutation, 2010

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

Nielsen M et al.

Gastroenterology, 2009

Introduction to molecular and clinical genetics of colorectal cancer syndromes.

Tops CM et al.

Best Practice & Research. Clinical Gastroenterology, 2009

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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."