Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1406*
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APC

NM_000038.6:p.Q1406*

Associated Papers

Bridge Capture Permits Cost-Efficient, Rapid, and Sensitive Molecular Precision Diagnostics.

Adamusová S et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Targeting PTPN13 with 11-amino-acid peptides of C-terminal APC prevents immune evasion of colorectal cancer.

Ma WH et al.

Cell Research, 2026

41486293 (PubMed )
Supplement: 41422_2025_1206_MOESM11_ESM.xlsx › Sheet1

Lymphoid enhancer-binding factor 1 (LEF1) immunostaining as a surrogate for β-catenin (CTNNB1) mutations.

Hewer E et al.

Journal of Clinical Pathology, 2025

39653501 (PubMed )
Supplement: jcp-79-1-s002.pdf

Beyond colonoscopy, faecal DNA mutation screening provides a potential and viable path to early colorectal cancer detection.

Alfaro-Núñez A et al.

Scientific Reports, 2025

41390520 (PubMed )
Supplement: 41598_2025_30802_MOESM4_ESM.xlsx › Variant

Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.

Padmanarayana M et al.

Biorxiv : the Preprint Server for Biology, 2025

41278994 (PubMed )
Supplement: media-2.xlsx › APC

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

Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.

Di Paola FJ et al.

Journal of Translational Medicine, 2024

38970018 (PubMed )
Supplement: 12967_2024_5305_MOESM1_ESM.docx

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Alba-Pavón P et al.

Translational Pediatrics, 2023

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

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

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids.

Geurts MH et al.

Nature Communications, 2023

Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.

Napolitano S et al.

Jama Oncology, 2023

37200022 (PubMed )
Supplement: jamaoncol-e230655-s003.xlsx › eTable4

Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression.

Zhang J et al.

Journal of Cancer Research and Clinical Oncology, 2023

Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.

Manirakiza F et al.

Current Issues in Molecular Biology, 2023

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

The genetic alterations of rectal neuroendocrine tumor and indications for therapy and prognosis: a systematic review.

Li K et al.

Endocrine Journal, 2023

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

Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy.

Serio VB et al.

Journal of Clinical Medicine, 2022

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-1760571_Sup_Info.pdf

Whole genome sequencing of Malaysian colorectal cancer patients reveals specific druggable somatic mutations.

Mohd Yunos RI et al.

Frontiers in Molecular Biosciences, 2022

Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Zhang Y et al.

Cell Reports, 2021

34788622 (PubMed )
Supplement: NIHMS1757901-supplement-2.xlsx › SNVs_indels

Extracellular Vesicle-Derived DNA vs. CfDNA as a Biomarker for the Detection of Colon Cancer.

Thakur K et al.

Genes, 2021

PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Stein A et al.

Journal for Immunotherapy of Cancer, 2021

34315821 (PubMed )
Supplement: jitc-2021-002844supp002.xlsx › Supplementary_Table_S3

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

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Aitchison A et al.

Cancers, 2020

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Lower Rate of CTNNB1 Mutations and Higher Rate of APC Mutations in Desmoid Fibromatosis of the Breast: A Series of 134 Tumors.

Norkowski E et al.

The American Journal of Surgical Pathology, 2020

Detection of circulating tumor DNA in patients of operative colorectal and gastric cancers.

Suzuki T et al.

Oncotarget, 2020

32922660 (PubMed )
Supplement: oncotarget-11-3198-s001.pdf

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

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

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM4_ESM.xlsx › Sheet1

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

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4
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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."