Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1
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
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
33726687 (PubMed )
Supplement: 12885_2021_7942_MOESM3_ESM.xlsx › Table_S2
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.
de Oliveira JC et al.
Cancer Medicine, 2019
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Pang M et al.
Molecular Medicine Reports, 2018
Spectrum of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies.
Yanus GA et al.
Clinical Genetics, 2018
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2015
Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.
Rohlin A et al.
Oncogene, 2011
The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
Censi F et al.
Genetic Testing and Molecular Biomarkers, 2010
Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.
Friedl W et al.
Hereditary Cancer in Clinical Practice, 2005
Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).
Bisgaard ML et al.
Human Mutation, 2004
[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].
Shelygin YA et al.
Voprosy Onkologii, 0
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