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
Pharmacogenetics of Drugs Used in the Treatment of Cancers.
Franczyk B et al.
Genes, 2022
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
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
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Khan N et al.
Scientific Reports, 2017
The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells.
Yedid N et al.
Bmc Cancer, 2016
Mutation spectrum of the APC gene in 83 Korean FAP families.
Kim DW et al.
Human Mutation, 2005
Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
Gavert N et al.
Human Mutation, 2002
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