Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.P1319delFs
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APC

NM_000038.6:p.P1319delFs

Associated Papers

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

Validation of a Molecular Diagnostic Test for Circulating Tumor DNA by Next-Gen Sequencing.

Fernandez SV et al.

International Journal of Molecular Sciences, 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

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

Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Yao J et al.

Cancer Biology & Medicine, 2022

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

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

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

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

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

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

Lorca V et al.

Scientific Reports, 2019

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

de Oliveira JC et al.

Cancer Medicine, 2019

Molecular characterization of ERBB2-amplified colorectal cancer identifies potential mechanisms of resistance to targeted therapies: a report of two instructive cases.

Owen DR et al.

Cold Spring Harbor Molecular Case Studies, 2018

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil.

Moreira-Nunes CA et al.

World Journal of Gastroenterology, 2015

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2015

The genomic landscapes of human breast and colorectal cancers.

Wood LD et al.

Science (new York, N.y.), 2007

17932254 (PubMed )
Supplement: 1145720s_tables.zip › 1145720tableS3.xls › Both

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1
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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."