Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E893*
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APC

NM_000038.6:p.E893*

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

Therapy-Associated Polyposis, Late Presentation of a Childhood-Treated Disease.

McGarrity TJ et al.

Acg Case Reports Journal, 2024

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

Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience.

Youssef ASE et al.

Current Issues in Molecular Biology, 2022

35723313 (PubMed )
Supplement: cimb-44-00090-s001.zip › Table_S3.xlsx › Variants

Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.

Liao H et al.

American Journal of Cancer Research, 2021

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Genotyping of Circulating Tumor DNA Reveals the Clinically Actionable Mutation Landscape of Advanced Colorectal Cancer.

Cao W et al.

Molecular Cancer Therapeutics, 2019

31015309 (PubMed )
Supplement: 15357163mct181247-sup-211489_2_supp_5355372_pn7d76.pdf

Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.

Hampel H et al.

Jama Oncology, 2018

Combined activation of MAP kinase pathway and β-catenin signaling cause deep penetrating nevi.

Yeh I et al.

Nature Communications, 2017

28935960 (PubMed )
Supplement: 41467_2017_758_MOESM1_ESM.pdf

T cell neoepitope discovery in colorectal cancer by high throughput profiling of somatic mutations in expressed genes.

Mennonna D et al.

Gut, 2017

Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.

Kohda M et al.

Familial Cancer, 2016

The importance of G2677T/A and C3435T polymorphisms of the MDR1 gene in the aetiology of colorectal cancer.

Stańko G et al.

Przeglad Gastroenterologiczny, 2016

Colorectal tumors from APC*I1307K carriers principally harbor somatic APC mutations outside the A8 tract.

Zauber P et al.

Plos One, 2014

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv

Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.

Sai K et al.

Expert Opinion on Drug Metabolism & Toxicology, 2011

The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Woods MO et al.

Gut, 2010

Substrate-dependent effects of human ABCB1 coding polymorphisms.

Gow JM et al.

The Journal of Pharmacology and Experimental Therapeutics, 2008

Very high incidence of familial colorectal cancer in Newfoundland: a comparison with Ontario and 13 other population-based studies.

Green RC et al.

Familial Cancer, 2007

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis.

Hutter P et al.

Human Mutation, 2001

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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."