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
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.
Lee SE et al.
International Journal of Molecular Sciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.
Karabachev AD et al.
Plos One, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Pang M et al.
Molecular Medicine Reports, 2018
DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.
Mamlouk S et al.
Nature Communications, 2017
Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.
Liu Q et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Crystal structures of the armadillo repeat domain of adenomatous polyposis coli and its complex with the tyrosine-rich domain of Sam68.
Morishita EC et al.
Structure (london, England : 1993), 2011
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.
Nielsen M et al.
Clinical Genetics, 2007
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S et al.
Human Mutation, 2004