Associated Papers
Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.
Cammarota F et al.
Biomedicines, 2026
Bridge Capture Permits Cost-Efficient, Rapid, and Sensitive Molecular Precision Diagnostics.
Adamusová S et al.
The Journal of Molecular Diagnostics : Jmd, 2026
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
Age-Related Multigene Analysis of Colorectal Cancer Using Next-Generation Sequencing.
Kozlowska-Geller M et al.
Cancers, 2025
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
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
Evaluation of Bridge Capture technology for mutation profiling in liquid biopsies of metastatic colorectal cancer patients.
Ganesan A et al.
Scientific Reports, 2025
Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.
Szeto S et al.
Cancer Medicine, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up.
Karstensen JG et al.
Familial Cancer, 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
Analytical Performance Evaluation of a 523-Gene Circulating Tumor DNA Assay for Next-Generation Sequencing-Based Comprehensive Tumor Profiling in Liquid Biopsy Samples.
Harter J et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case.
Remo A et al.
Genes, 2023
Parental Germline Mutations of a Patient with De Novo APC Mutation.
Zhang S et al.
Digestive Diseases and Sciences, 2023
A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.
Marques Da Costa ME et al.
Communications Biology, 2023
Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
Eikenboom EL et al.
Cancers, 2023
Evaluation of the Prognostic Value of Low-Frequency KRAS Mutation Detection in Circulating Tumor DNA of Patients with Metastatic Colorectal Cancer.
Lin CY et al.
Journal of Personalized Medicine, 2023
Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer.
Manirakiza F et al.
Current Issues in Molecular Biology, 2023
Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.
Ito T et al.
Scientific Reports, 2023
Metastatic Colorectal Cancer Treatment Response Evaluation by Ultra-Deep Sequencing of Cell-Free DNA and Matched White Blood Cells.
van 't Erve I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Patterns of Somatic Variants in Colorectal Adenoma and Carcinoma Tissue and Matched Plasma Samples from the Hungarian Oncogenome Program.
Kalmár A et al.
Cancers, 2023
Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Bhai P et al.
Frontiers in Oncology, 2023
Molecular characteristics of young-onset colorectal cancer in Vietnamese patients.
Do MD et al.
Asia-pacific Journal of Clinical Oncology, 2022
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
Dos Santos W et al.
Bmc Medical Genomics, 2022
Evaluation of combined detection of multigene mutation and SDC2/SFRP2 methylation in stool specimens for colorectal cancer early diagnosis.
Lin J et al.
International Journal of Colorectal Disease, 2022
An Atypical Case of Very Early-onset Familial Adenomatous Polyposis Associated With Focal Cortical Dysplasia.
Henry A et al.
Journal of Pediatric Hematology/oncology, 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
Identification of APC Mutation as a Potential Predictor for Immunotherapy in Colorectal Cancer.
Feng F et al.
Journal of Oncology, 2022
Cribriform-Morular Thyroid Carcinoma Is a Distinct Thyroid Malignancy of Uncertain Cytogenesis.
Boyraz B et al.
Endocrine Pathology, 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
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
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for "Lynch-like syndrome" including young patients.
Lefol C et al.
European Journal of Human Genetics : Ejhg, 2021
Circulating Tumour DNA Sequencing Identifies a Genetic Resistance-Gap in Colorectal Cancers with Acquired Resistance to EGFR-Antibodies and Chemotherapy.
Knebel FH et al.
Cancers, 2020
Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hayashi H et al.
Cancer Science, 2020
Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.
Kleeman SO et al.
Gut, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
Female adnexal tumors of probable Wolffian origin: morphological, immunohistochemical, and molecular analysis of 15 cases.
Bennett JA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
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
Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.
Unknown Author
Familial Cancer, 2020
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 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
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing.
Lorca V et al.
Scientific Reports, 2019