Associated Papers
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Human colonic organoids for understanding early events of familial adenomatous polyposis pathogenesis.
Laborde N et al.
The Journal of Pathology, 2025
Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.
Tanabe H et al.
Frontiers in Genetics, 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
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.
Büki G et al.
International Journal of Molecular Sciences, 2024
Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.
Khider F et al.
Molecular Biology Reports, 2022
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.
Staninova-Stojovska M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.
Li N et al.
Journal of Gastroenterology and Hepatology, 2019
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Gong R et al.
Cancer Management and Research, 2019
miR-155 Is Downregulated in Familial Adenomatous Polyposis and Modulates WNT Signaling by Targeting AXIN1 and TCF4.
Prossomariti A et al.
Molecular Cancer Research : Mcr, 2018
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
Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.
Marabelli M et al.
Genetic Testing and Molecular Biomarkers, 2016
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
Kerr SE et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists.
Mongin C et al.
Clinical Genetics, 2012
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.
Rivera B et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2011
APC gene mutations causing familial adenomatous polyposis in Polish patients.
Plawski A et al.
Journal of Applied Genetics, 2008
Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?
Aretz S et al.
Pediatric Blood & Cancer, 2006
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
First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.
De Rosa M et al.
Human Mutation, 2004
The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutations.
De Rosa M et al.
Human Mutation, 2003
Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.
Wu G et al.
Genetic Testing, 2001
[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].
Shelygin YA et al.
Voprosy Onkologii, 0