Associated Papers
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Dissecting Tumor Heterogeneity by Liquid Biopsy-A Comparative Analysis of Post-Mortem Tissue and Pre-Mortem Liquid Biopsies in Solid Neoplasias.
Mögele T et al.
International Journal of Molecular Sciences, 2025
Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.
Szakállas N et al.
International Journal of Molecular Sciences, 2025
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 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
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
Molecular and immunohistochemical study of APC exon 16 and its possible role in colorectal carcinoma development.
Al-Tameemi HK et al.
Heliyon, 2024
Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.
Behrens D et al.
Cancers, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Somatic and Germline Variants Affect Prognosis and Susceptibility in Prostate Cancer.
Rocca C et al.
Anticancer Research, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
Detection of disease-causing mutations in prostate cancer by NGS sequencing.
Mangolini A et al.
Cell Biology International, 2022
Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.
Csoma SL et al.
Cancers, 2022
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
PARP inhibitor resistance and TP53 mutations in patients treated with olaparib for BRCA-mutated cancer: Four case reports.
Collot T et al.
Molecular Medicine Reports, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Velázquez C et al.
Journal of Translational Medicine, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Germline APC mutations in hepatoblastoma.
Yang A et al.
Pediatric Blood & Cancer, 2018
The role of APC in WNT pathway activation in serrated neoplasia.
Borowsky J et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M et al.
Bmc Medical Genetics, 2018
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.
Dominguez-Valentin M et al.
Familial Cancer, 2018
Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.
Ashktorab H et al.
Oncotarget, 2017
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis.
Koskenvuo L et al.
Journal of Surgical Oncology, 2016
Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.
Abdel-Malak C et al.
Familial Cancer, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Out AA et al.
Familial Cancer, 2015
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Association between the APC gene D1822V variant and the genetic susceptibility of colorectal cancer.
Feng M et al.
Oncology Letters, 2014
Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis.
Schlussel AT et al.
Case Reports in Medicine, 2014
APC germline mutations in families with familial adenomatous polyposis.
De Queiroz Rossanese LB et al.
Oncology Reports, 2013