Associated Papers
Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.
Bozsik A et al.
Critical Reviews in Oncology/hematology, 2025
RNA Splicing Aberrations in Hereditary Cancer: Insights from Turkish Patients.
Kilic S et al.
Current Issues in Molecular Biology, 2024
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
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.
Young CC et al.
Jco Precision Oncology, 2024
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
Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization.
Bozsik A et al.
European Journal of Human Genetics : Ejhg, 2023
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.
Elsayed FA et al.
Familial Cancer, 2022
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
Spier I et al.
Human Mutation, 2012
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