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 › e_Cli-data
Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.
Yang LP et al.
Cell Reports. Medicine, 2023
37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb
Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.
Schumacher D et al.
Plos Genetics, 2019
30925167 (PubMed )
Supplement: pgen.1008076.s018.xlsx › S13_Table
Identification of Lynch syndrome risk variants in the Romanian population.
Iordache PD et al.
Journal of Cellular and Molecular Medicine, 2018
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
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
Papp J et al.
Familial Cancer, 2016
APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.
Latchford A et al.
Human Molecular Genetics, 2007
The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.
Lamlum H et al.
Nature Medicine, 1999
Alternative genetic pathways in colorectal carcinogenesis.
Olschwang S et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
Gismondi V et al.
Human Mutation, 1997
Select a paper to view details