Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1328*
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APC

NM_000038.6:p.Q1328*

Associated Papers

Common gene mutations in 103 authenticated colorectal cancer cell lines.

Kranjec C et al.

Oncogenesis, 2026

41593049 (PubMed )
Supplement: 41389_2026_599_MOESM2_ESM.xlsx › Supplementary_Table_10

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

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.

Nakamura Y et al.

Nature Medicine, 2025

39284955 (PubMed )
Supplement: 41591_2024_3244_MOESM2_ESM.xlsx › Suppementary_Table_1

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Therapeutic vulnerabilities and pan-cancer landscape of BRAF class III mutations in epithelial solid tumors.

Özgü E et al.

Bjc Reports, 2024

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2a.Studied_gene

Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.

Do MD et al.

Asia-pacific Journal of Clinical Oncology, 2022

35098669 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD142

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2C

Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Villiger L et al.

Molecular Therapy. Nucleic Acids, 2021

34631280 (PubMed )
Supplement: mmc3.xlsx › Tabelle1

Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.

Lim Y et al.

Scientific Reports, 2021

34381078 (PubMed )
Supplement: 41598_2021_95345_MOESM4_ESM.xlsx › Suppl._Table_3

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.

Lee SE et al.

International Journal of Molecular Sciences, 2021

34074070 (PubMed )
Supplement: ijms-22-05561-s001.zip › ijms-1205781-supplementary.xlsx › Table_S1

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Xiao J et al.

Bmc Cancer, 2021

33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2

Hearing Status of Children and Adolescents With Familial Adenomatous Polyposis.

Findlen UM et al.

Anticancer Research, 2021

Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Kleeman SO et al.

Gut, 2020

31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.

de Oliveira JC et al.

Cancer Medicine, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Analysis of clinically relevant somatic mutations in high-risk head and neck cutaneous squamous cell carcinoma.

Zilberg C et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes.

Mennonna D et al.

Gut, 2017

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

Somatic APC inactivation mechanisms in sporadic colorectal cancer cases in Hungary.

Kámory E et al.

Pathology Oncology Research : Por, 2008

The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.

De Rosa M et al.

Human Mutation, 2003

The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.

Albuquerque C et al.

Human Molecular Genetics, 2002

Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.

Gismondi V et al.

Human Mutation, 1997

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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."