Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.A2121_A2122ins0
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APC

NM_000038.6:p.A2121_A2122ins0

Associated Papers

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › D

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Chan JM et al.

Familial Cancer, 2022

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.

Beard C et al.

Familial Cancer, 2019

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

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

Yurgelun MB et al.

Gastroenterology, 2015

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

Out AA et al.

Familial Cancer, 2015

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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."