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
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up.
Karstensen JG et al.
Familial Cancer, 2024
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 next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
34221970 (PubMed )
Supplement: Table_5.xlsx › Supplementary_Table_S5
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
31563876 (PubMed )
Supplement: gutjnl-2019-319126supp003.xlsx › Sup_Table_3
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Rohlin A et al.
Oncogene, 2011
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.
Nilbert M et al.
Bmc Medical Genetics, 2008
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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