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
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
Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
Dragoš VŠ et al.
International Journal of Molecular Sciences, 2022
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
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
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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