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
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
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT et al.
Frontiers in Oncology, 2022
36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE
APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome.
Disciglio V et al.
Genes, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2
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
IFN/STAT signaling controls tumorigenesis and the drug response in colorectal cancer.
Sakahara M et al.
Cancer Science, 2019
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
Kerr SE et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
21859464 (PubMed )
Supplement: 1476-4598-10-101-S1.DOC
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.
Heinen CD
Mutation Research, 2010
Allele-specific expression of APC in adenomatous polyposis families.
Castellsagué E et al.
Gastroenterology, 2010
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
Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.
Menéndez M et al.
Gastroenterology, 2008
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