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
Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.
Fasano C et al.
Cancers, 2024
Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.
Forte G et al.
Genes & Diseases, 2023
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.
Viel A et al.
Ebiomedicine, 2017
28551381 (PubMed )
Supplement: mmc7.pdf
Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.
Sakai E et al.
International Journal of Cancer, 2016
26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
Stekrova J et al.
Bmc Medical Genetics, 2007
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