Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
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
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
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
Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.
da Costa E Silva Carvalho S et al.
Bmc Medical Genomics, 2020
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.
Solyom S et al.
Science Translational Medicine, 2012
Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.
Novak DJ et al.
Breast Cancer Research and Treatment, 2009
Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility.
Osorio A et al.
Breast Cancer Research and Treatment, 2009
Searching for new breast cancer-associated genes. ABRAXAS1 gene mutations in the group of BRCA1-negative patients.
Bąk A et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 0