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 › d_Exp-data
Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.
Di Paola FJ et al.
Journal of Translational Medicine, 2024
38970018 (PubMed )
Supplement: 12967_2024_5305_MOESM1_ESM.docx
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
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Kaufmann A et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
Stekrova J et al.
Bmc Medical 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
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