Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1397*
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APC

NM_000038.6:p.E1397*

Associated Papers

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

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

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Deciphering the Functional Roles of Individual Cancer Alleles Across Comprehensive Cancer Genomic Studies.

Ma JY et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Evaluation of the Prognostic Value of Low-Frequency KRAS Mutation Detection in Circulating Tumor DNA of Patients with Metastatic Colorectal Cancer.

Lin CY et al.

Journal of Personalized Medicine, 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

Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.

van 't Erve I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36534496 (PubMed )
Supplement: ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx › ST10

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

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

NTRK fusion positive colorectal cancer is a unique subset of CRC with high TMB and microsatellite instability.

Wang H et al.

Cancer Medicine, 2022

35506567 (PubMed )
Supplement: CAM4-11-2541-s004.pdf

Mutant p53 achieved Gain-of-Function by promoting tumor growth and immune escape through PHLPP2/AKT/PD-L1 pathway.

Liu N et al.

International Journal of Biological Sciences, 2022

Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Nguyen HT et al.

Frontiers in Oncology, 2022

36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE

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

Germline mutations in a DNA repair pathway are associated with familial colorectal cancer.

Xu P et al.

Jci Insight, 2021

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

Genotyping data of routinely processed matched primary/metastatic tumor samples.

Kotoula V et al.

Data in Brief, 2021

33365374 (PubMed )
Supplement: mmc1.xlsx › S3_variants

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

A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Kang T et al.

Breast Cancer Research : Bcr, 2020

32736587 (PubMed )
Supplement: 13058_2020_1322_MOESM3_ESM.xlsx › F_batch

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

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_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

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM10_ESM.xlsx › Sheet1

Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.

Lorca V et al.

Scientific Reports, 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

Circulating tumor DNA in patients with colorectal adenomas: assessment of detectability and genetic heterogeneity.

Myint NNM et al.

Cell Death & Disease, 2018

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

The role of APC in WNT pathway activation in serrated neoplasia.

Borowsky J et al.

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

Targeted next generation sequencing in Chinese colorectal cancer patients guided anti-EGFR treatment and facilitated precision cancer medicine.

Hou H et al.

Oncotarget, 2017

29285234 (PubMed )
Supplement: oncotarget-08-105072-s002.xlsx › Data

Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Hovelson DH et al.

Oncotarget, 2017

29163793 (PubMed )
Supplement: oncotarget-08-89848-s005.xlsx › TableS4

Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Kong SL et al.

Oncotarget, 2017

28978093 (PubMed )
Supplement: oncotarget-08-68026-s002.xlsx › Table_S5

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

DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Mamlouk S et al.

Nature Communications, 2017

28120820 (PubMed )
Supplement: ncomms14093-s2.xlsx › inter-tumor_cohort_filtered
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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."