Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1408*
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APC

NM_000038.6:p.E1408*

Associated Papers

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

Adamusová S et al.

The Journal of Molecular Diagnostics : Jmd, 2026

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

Chan-Pak-Choon F et al.

The Journal of Pathology, 2025

40879644 (PubMed )
Supplement: PATH-267-241-s002.xlsx › Table_S1

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

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

35803914 (PubMed )
Supplement: 41467_2022_31341_MOESM4_ESM.xlsx › Supplementary_Data_Table_3

Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Kyrochristos ID et al.

Frontiers in Oncology, 2022

35402285 (PubMed )
Supplement: Table_1.xlsx › Patient_plots

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

Intra-Tumor Heterogeneity of Colorectal Cancer Necessitates the Multi-Regional Sequencing for Comprehensive Mutational Profiling.

Guo S et al.

Cancer Management and Research, 2021

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

Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.

Hayashi H et al.

Cancer Science, 2020

32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy.

Yamamoto T et al.

Cancers, 2020

32708005 (PubMed )
Supplement: cancers-12-02010-s001.pdf

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp005.xlsx › APC_somatic_mutation_profile

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

Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Dos Santos W et al.

Scientific Reports, 2019

31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf

Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer.

Ham-Karim HA et al.

Molecular Diagnosis & Therapy, 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

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4.

Prossomariti A et al.

Molecular Cancer Research : Mcr, 2018

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc7.pdf

Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.

Lee SH et al.

Oncotarget, 2017

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.

Brannon AR et al.

Genome Biology, 2014

25164765 (PubMed )
Supplement: 13059_2014_454_MOESM1_ESM.xlsx › Sheet1

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Palles C et al.

Nature Genetics, 2013

Familial colorectal cancer type X syndrome: two distinct molecular entities?

Francisco I et al.

Familial Cancer, 2011

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Pan M et al.

Human Mutation, 2011

Dynamics of cancer cell subpopulations in primary and metastatic colorectal tumors.

Goranova TE et al.

Clinical & Experimental Metastasis, 2011

21380628 (PubMed )
Supplement: 10585_2011_9381_MOESM1_ESM.xls › Sheet1

Alternative genetic pathways in colorectal carcinogenesis.

Olschwang S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

[Familial colorectal cancer type X: clinical, pathological and molecular characterization].

Ferreira S et al.

Acta Medica Portuguesa, 0

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