Associated Papers
Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.
Cammarota F et al.
Biomedicines, 2026
Common gene mutations in 103 authenticated colorectal cancer cell lines.
Kranjec C et al.
Oncogenesis, 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
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
Contribution of Germline Predisposition to Pediatric Thyroid Cancer.
Harrison C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Germline variants in patients from the Iranian hereditary colorectal cancer registry.
Goshayeshi L et al.
Cancer Cell International, 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
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
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.
Guo Y et al.
Frontiers in Oncology, 2025
Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline double heterozygosity in ovarian cancer: a comparative case study.
Zheng L et al.
Frontiers in 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
Mutation patterns in colorectal cancer and their relationship with prognosis.
Su Z et al.
Heliyon, 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
Interplay between WNT/PI3K-mTOR axis and the microbiota in APC-driven colorectal carcinogenesis: data from a pilot study and possible implications for CRC prevention.
Di Paola FJ et al.
Journal of Translational Medicine, 2024
Puzzling phenomenon: adult-onset cancer predisposition and pediatric cancer.
Kuhlen M et al.
Trends in Cancer, 2024
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Dangoni GD et al.
Pediatric Research, 2024
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Association between Pancreatoblastoma and Familial Adenomatous Polyposis: Review of the Literature with an Additional Case.
Remo A et al.
Genes, 2023
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 2023
Region-specific Wnt signaling responses promote gastric polyp formation in patients with familial adenomatous polyposis.
McGowan KP et al.
Jci Insight, 2023
Parental Germline Mutations of a Patient with De Novo APC Mutation.
Zhang S et al.
Digestive Diseases and Sciences, 2023
Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure?
Eikenboom EL et al.
Cancers, 2023
A unique case of rectal cancer with coexistence of multiple pathways of carcinogenesis.
Rateria N et al.
World Journal of Surgical Oncology, 2023
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Kałużewski T et al.
International Journal of Molecular Sciences, 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
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
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
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C et al.
American Journal of Human Genetics, 2022
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
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
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun P et al.
Molecular Syndromology, 2022
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
Lim Y et al.
Scientific Reports, 2021
PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.
Stein A et al.
Journal for Immunotherapy of Cancer, 2021
Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.
Garcia J et al.
Scientific Reports, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
Ghadamyari F et al.
Journal of Clinical Laboratory Analysis, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021