Varaico: Literature-Extracted Genetic Variants

Gene:MUTYH
Variant:p.Q19*
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MUTYH

NM_001048174.2:p.Q19*

Associated Papers

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.

Xiong C et al.

Human Genomics, 2025

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Action-at-a-distance mutations by 8-oxo-7,8-dihydroguanine: adenine pair triggered by MUTYH.

Fukushima R et al.

Genes and Environment : the Official Journal of the Japanese Environmental Mutagen Society, 2025

41102862 (PubMed )
Supplement: 41021_2025_340_MOESM1_ESM.pdf

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

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

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.

Wang C et al.

Iscience, 2024

39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled

Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing.

Yu Z et al.

Molecular Oncology, 2024

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

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

Wen H et al.

Jama Network Open, 2023

37523182 (PubMed )
Supplement: jamanetwopen-e2326437-s001.pdf

Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

AlHarbi M et al.

Oncotarget, 2023

37306523 (PubMed )
Supplement: oncotarget-14-28457-s002.xlsx › Table_S3

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Hassanin E et al.

Bmc Medical Genomics, 2023

36872334 (PubMed )
Supplement: 12920_2023_1469_MOESM1_ESM.xlsx › Sheet1

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

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

First-line crizotinib therapy is effective for a novel SEC31A-anaplastic lymphoma kinase fusion in a patient with stage IV lung adenocarcinoma: a case report and literature reviews.

Wu R et al.

Anti-cancer Drugs, 2023

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.

Huang Y et al.

Journal of Personalized Medicine, 2022

36143288 (PubMed )
Supplement: jpm-12-01503-s001.zip › jpm-1809294-supplementary.xlsx › monoallelic_variant__Truncating

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

Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Kim YN et al.

Cancers, 2022

35884469 (PubMed )
Supplement: cancers-14-03406-s001.zip › cancers-1792460-supplementary.pdf

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Douglas SPM et al.

Scientific Reports, 2022

35739278 (PubMed )
Supplement: 41598_2022_14364_MOESM1_ESM.xlsx › Supplementary_table_1

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Peng W et al.

Nature Communications, 2022

35273153 (PubMed )
Supplement: 41467_2022_28840_MOESM4_ESM.xlsx › Sheet1

A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

Bao G et al.

Frontiers in Oncology, 2022

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Ng CC et al.

Frontiers in Molecular Biosciences, 2022

36213130 (PubMed )
Supplement: DataSheet1.xlsx › Table_S3

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Ho PJ et al.

Genome Medicine, 2021

34857041 (PubMed )
Supplement: 13073_2021_978_MOESM1_ESM.xlsx › sT2

Incidence of germline variants in Lynch syndrome-related genes among Japanese endometrial cancer patients aged 40 years or younger.

Makabe T et al.

International Journal of Clinical Oncology, 2021

EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Jin R et al.

Frontiers in Oncology, 2021

34195081 (PubMed )
Supplement: Table_2.xlsx › EGFR-Mutant_ADC

Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Lang GT et al.

Annals of Translational Medicine, 2020

Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes.

Mizukami K et al.

Ebiomedicine, 2020

32980694 (PubMed )
Supplement: mmc1.pdf

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Shao D et al.

Cancer Science, 2020

31742824 (PubMed )
Supplement: CAS-111-647-s001.xlsx › List_of_pathogenic_mutations

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

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

Meng H et al.

Biomed Research International, 2020

Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.

Li N et al.

Journal of Gastroenterology and Hepatology, 2019

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_MOESM2_ESM.xlsx › ___1

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2019

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.

Takao M et al.

International Journal of Clinical Oncology, 2018

Germline mutations in patients with multiple colorectal polyps in China.

Li CG et al.

Journal of Gastroenterology and Hepatology, 2017

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Impaired 8-hydroxyguanine repair activity of MUTYH variant p.Arg109Trp found in a Japanese patient with early-onset colorectal cancer.

Shinmura K et al.

Oxidative Medicine and Cellular Longevity, 2014

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

Nielsen M et al.

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."