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
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
Abdelmaksoud-Dammak R et al.
Plos One, 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
Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.
Lin L et al.
Hereditary Cancer in Clinical Practice, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.
Zhou S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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
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
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
The First Case of Cribriform-Morular Thyroid Carcinoma and FAP with APC Gene Mutation in China: A Case Report and Brief Review.
Lyu S et al.
Case Reports in Gastrointestinal 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
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
Loke J et al.
Hgg Advances, 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
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 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
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D.
Nieminen TT et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.
Staninova-Stojovska M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.
Wang D et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019
Genotype-phenotype correlation in 99 familial adenomatous polyposis patients: A prospective prevention protocol.
de Oliveira JC et al.
Cancer Medicine, 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