Associated Papers
A rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.
Yang CH et al.
Experimental and Therapeutic Medicine, 2026
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen
A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.
Fann F et al.
Familial Cancer, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf
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: mmc1.pdf
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
37745687 (PubMed )
Supplement: Table2.xlsx › TableS2
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
Toss A et al.
Genes, 2021
Role of a Rare Variant in APC Gene Promoter 1B Region in Classic Familial Adenomatous Polyposis.
Yang M et al.
Digestion, 2021
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
Jelsig AM et al.
The Application of Clinical Genetics, 2021
APC transcription studies and molecular diagnosis of familial adenomatous polyposis.
Short E et al.
European Journal of Human Genetics : Ejhg, 2020
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
Mork ME et al.
Cancer Genetics, 2019
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › APC.Ion
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J et al.
American Journal of Human Genetics, 2016
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.
Clyne M et al.
British Journal of Cancer, 2009
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