Associated Papers
Genotype-guided conservative management of mesenteric desmoid tumors: A case report of intermediate-region APC mutations.
Huang N et al.
Medicine, 2026
Familial adenomatous polyposis and gastric cancer.
Li M et al.
Qjm : Monthly Journal of the Association of Physicians, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Comparative insight: hereditary colorectal cancer registries in Iran, Singapore, and South Africa.
Goshayeshi L et al.
Familial Cancer, 2025
Familial adenomatous polyposis family with clustering of psychiatric disorders.
Funaki M et al.
Japanese Journal of Clinical Oncology, 2025
A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.
Freitas JD et al.
Cureus, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 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
Multiomic analysis of familial adenomatous polyposis reveals molecular pathways associated with early tumorigenesis.
Esplin ED et al.
Nature Cancer, 2024
Mutational analysis of pulmonary large cell neuroendocrine carcinoma: APC gene mutations identify a good prognostic factor.
Li M et al.
Lung Cancer (amsterdam, Netherlands), 2024
An update of the variant spectrum of the APC gene in Iranian familial adenomatous polyposis patients.
Mirabdolhosseini SM et al.
Nucleosides, Nucleotides & Nucleic Acids, 2024
Case report: Turcot syndrome type 2 in a developing country within the Caribbean.
Daniel-Abdool M et al.
Frontiers in Oncology, 2024
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Low adenoma burden in unselected patients with a pathogenic APC variant.
Schwiter R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis.
Ponces Ramalhão J et al.
Bmj Case Reports, 2023
Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.
McGowan KP et al.
Jci Insight, 2023
Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.
Alba-Pavón P et al.
Translational Pediatrics, 2023
The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.
Tsantikidi A et al.
Diagnostics (basel, Switzerland), 2023
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.
AlHarbi M et al.
Oncotarget, 2023
Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.
Montes-Rodríguez IM et al.
Cancer Medicine, 2023
High frequency of WNT-activated medulloblastomas with CTNNB1 wild type suggests a higher proportion of hereditary cases in a Latin-Iberian population.
Moreno DA et al.
Frontiers in Oncology, 2023
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
The repertoire of germline variants in patients with early-onset rectal cancer.
Beltrami CM et al.
Cancer Communications (london, England), 2022
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.
Lee JK et al.
Cancer Genetics, 2022
A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis.
Blum SM et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2021
Medulloblastoma and familial adenomatous polyposis: Good prognosis and good quality of life in the long-term?
Massimino M et al.
Pediatric Blood & Cancer, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
[Different Gene Mutation Spectrum of the Paired CSF and Plasma Samples in Lung Adenocarcinoma with Leptomeningeal Metastases: the Liquid Biopsy Based on Circulating Tumor DNA].
Li H et al.
Zhongguo Fei Ai Za Zhi = Chinese Journal of Lung Cancer, 2020
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.
Surun A et al.
Neuro-oncology, 2020
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.
Aydemirli MD et al.
Familial Cancer, 2020
Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma Is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis.
Park J et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Clinical characterization and mutation spectrum in patients with familial adenomatous polyposis in China.
Li N et al.
Journal of Gastroenterology and Hepatology, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.
de Oliveira JC et al.
Cancer Medicine, 2019
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene.
Urbanova M et al.
Neoplasma, 2019
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 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
Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.
Porkka N et al.
Oncotarget, 2017
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.
Khan N et al.
Scientific Reports, 2017
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Cruz-Correa M et al.
Hereditary Cancer in Clinical Practice, 2017
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
Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.
Liu Q et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.
Zhang S et al.
Gene, 2016