Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1309fs
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APC

NM_000038.6:p.E1309fs

Associated Papers

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.

Guo Y et al.

Frontiers in Oncology, 2025

Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.

Tanabe H et al.

Frontiers in Genetics, 2025

41488735 (PubMed )
Supplement: Table2.xlsx › Sporadic

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

Prevalence of Potentially Pathogenic Germline Variants Among Adult Patients in the Philippines With Solid Malignancies Who Underwent Tumor Genomic Profiling.

Franco PI et al.

Jco Global Oncology, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Case report: Precision guided reactive cancer management: molecular complete response in heavily pretreated metastatic CRC by dual immunotherapy and sorafenib.

Aydın E et al.

Frontiers in Oncology, 2024

Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.

McGowan KP et al.

Jci Insight, 2023

A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population.

Li C et al.

Journal of Gastroenterology and Hepatology, 2023

Identification of an optimal mutant allele frequency to detect activating KRAS, NRAS, and BRAF mutations in a commercial cell-free DNA next-generation sequencing assay in colorectal and pancreatic adenocarcinomas.

Caughey BA et al.

Journal of Gastrointestinal Oncology, 2023

Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam.

Nguyen HT et al.

Familial Cancer, 2023

A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis.

Rateria N et al.

World Journal of Surgical Oncology, 2023

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

Mutational landscape of cancer-driver genes across human cancers.

Sinkala M

Scientific Reports, 2023

37550388 (PubMed )
Supplement: 41598_2023_39608_MOESM6_ESM.xlsx › Sheet1

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

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Haefliger S et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2023

36202073 (PubMed )
Supplement: pat-0090-0166-s01.pdf

Epithelial TGFβ engages growth-factor signalling to circumvent apoptosis and drive intestinal tumourigenesis with aggressive features.

Flanagan DJ et al.

Nature Communications, 2022

36477656 (PubMed )
Supplement: 41467_2022_35134_MOESM4_ESM.xlsx › Figure_1c

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 › ST3_Known_Somatic_Variants

CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Li Q et al.

Science Advances, 2022

35544644 (PubMed )
Supplement: sciadv.abj1624_table_s3.zip › sciadv.abj1624_table_s3.xlsx › Supp-Table-3

Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.

Ercoskun P et al.

Molecular Syndromology, 2022

Tumour-Derived Cell Lines and Their Potential for Therapy Prediction in Patients with Metastatic Colorectal Cancer.

Wagner S et al.

Cancers, 2021

34572946 (PubMed )
Supplement: cancers-13-04717-s001.zip › cancers-1355846-supplementary.xlsx › Table_S3_SNVs

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

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

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

Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Garcia J et al.

Scientific Reports, 2021

34031447 (PubMed )
Supplement: 41598_2021_89592_MOESM1_ESM.xlsx › Supplementary_Table_S2

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

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

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Evaluation of the RAS signaling network in response to MEK inhibition using organoids derived from a familial adenomatous polyposis patient.

Osumi H et al.

Scientific Reports, 2020

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Mamlouk S et al.

Bmc Biology, 2020

32895052 (PubMed )
Supplement: 12915_2020_844_MOESM4_ESM.xlsx › AC33_public

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

Li J et al.

Gut, 2020

Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

De Falco V et al.

Esmo Open, 2020

32234730 (PubMed )
Supplement: esmoopen-2020-000675supp003.pdf

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

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Aydemirli MD et al.

Familial Cancer, 2020

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

Somatic mutation profiling and HER2 status in KRAS-positive Chinese colorectal cancer patients.

Dong Z et al.

Scientific Reports, 2019

31729406 (PubMed )
Supplement: 41598_2019_53039_MOESM1_ESM.pdf

RAS and BRAF mutations in cell-free DNA are predictive for outcome of cetuximab monotherapy in patients with tissue-tested RAS wild-type advanced colorectal cancer.

van Helden EJ et al.

Molecular Oncology, 2019

31350822 (PubMed )
Supplement: MOL2-13-2361-s006.xlsx › Blad1

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

Tubulopapillary adrenocortical adenoma in a patient with familial adenomatous polyposis: a morphologic, ultrastructural, and molecular study.

Huang H et al.

Human Pathology, 2019

Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.

You YN et al.

Diseases of the Colon and Rectum, 2019

Clinicopathological characterization of SMAD4-mutated intestinal adenocarcinomas: A case-control study.

Liao X et al.

Plos One, 2019

30730996 (PubMed )
Supplement: pone.0212142.s001.xlsx › SMAD4_cases

Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial.

Goschzik T et al.

The Lancet. Oncology, 2018

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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."