Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1156_E1157del1
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APC

NM_000038.6:p.E1156_E1157del1

Associated Papers

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

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

Fernandez SV et al.

International Journal of Molecular Sciences, 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

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Dámaso E et al.

Cancers, 2020

32635641 (PubMed )
Supplement: cancers-12-01799-s001.zip › Supplementary_tables__Epi_genetic_characterization_of_LLS_with_modified_table_number.xlsx › Table_S5

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Rosenthal SH et al.

Biomed Research International, 2020

Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1- and MSH3-associated polyposes.

Terradas M et al.

Human Mutation, 2019

Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.

Ciavarella M et al.

European Journal of Human Genetics : Ejhg, 2018

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Harrison SM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4

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_S3

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST3
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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."