Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.Q426*
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MUTYH

NM_001048174.2:p.Q426*

Associated Papers

Germline genomic profiling of patients with early-onset colorectal cancer.

Mauri G et al.

Esmo Gastrointestinal Oncology, 2025

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson AL et al.

Genome Medicine, 2023

37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4

Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.

Calvello M et al.

Genes, 2023

37239438 (PubMed )
Supplement: genes-14-01077-s001.zip › Table_S3.pdf

A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome.

Walker R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36909643 (PubMed )
Supplement: media-1.zip › Supplementary_material_v2.pdf

Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Tavano F et al.

Molecular Medicine (cambridge, Mass.), 2023

36717774 (PubMed )
Supplement: 10020_2023_600_MOESM1_ESM.xlsx › s1

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Arniani S et al.

Leukemia, 2022

35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_16

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM15_ESM.xlsx › Sup._Data_12_All.Germ.Muts.

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

Pearlman R et al.

Jco Precision Oncology, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Lin PC et al.

Scientific Reports, 2019

30850667 (PubMed )
Supplement: 41598_2019_40571_MOESM4_ESM.xlsx › Supp_Table_3

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

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

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

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."