Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.R409_H410insFs
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MUTYH

NM_001048174.2:p.R409_H410insFs

Associated Papers

KRAS-G12C: The neglected biomarker to detect patients with MUTYH-associated polyposis.

Medeiros ABD et al.

International Journal of Cancer, 2026

Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.

Marabelli M et al.

Cancers, 2025

40361347 (PubMed )
Supplement: cancers-17-01419-s001.zip › Table_S6.xlsx › Foglio1

A Novel Germline MUTYH Mutation (p.W156∗) in High-Grade Astrocytoma, IDH Mutant.

Zhang L et al.

Human Mutation, 2025

Genetic investigation of a Tunisian family with Lynch syndrome: a case report.

Abdelmaksoud-Dammak R et al.

Frontiers in Oncology, 2025

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

McVeigh TP et al.

Journal of Medical Genetics, 2024

A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.

Cipri S et al.

Neuropathology and Applied Neurobiology, 2024

Surveillance Outcome and Genetic Findings in Individuals at High Risk of Pancreatic Cancer.

Rosner G et al.

Clinical and Translational Gastroenterology, 2024

First report of medulloblastoma in a patient with MUTYH-associated polyposis.

Villy MC et al.

Neuropathology and Applied Neurobiology, 2023

New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.

Sahin I et al.

Genetic Testing and Molecular Biomarkers, 2022

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

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Lorca V et al.

Scientific Reports, 2019

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.

Martin-Morales L et al.

Plos One, 2018

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.

Win AK et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2017

Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

Win AK et al.

International Journal of Cancer, 2016

Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

Tezcan G et al.

World Journal of Gastrointestinal Oncology, 2016

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

Multiple primary cancers as a guide to heritability.

Cybulski C et al.

International Journal of Cancer, 2014

Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps.

Guarinos C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

Establishing a diagnostic road map for MUTYH-associated polyposis.

Borras E et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

Loss of MUTYH function in human cells leads to accumulation of oxidative damage and genetic instability.

Ruggieri V et al.

Oncogene, 2013

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.

Abdelmaksoud-Dammak R et al.

Familial Cancer, 2012

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

22908982 (PubMed )
Supplement: 1750-1172-7-52-S2.xlsx › Feuil1

Frequent mutation in North African patients with MUTYH-associated polyposis.

Lefevre JH et al.

Clinical Genetics, 2011

MUTYH-associated polyposis (MAP).

Nielsen M et al.

Critical Reviews in Oncology/hematology, 2011

[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."