Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.
Eberhard A et al.
Iscience, 2025
The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.
Pinheiro RF et al.
Dna Repair, 2025
Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer.
Faversani A et al.
Frontiers in Oncology, 2025
Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.
de Amorim IFG et al.
Plos One, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.
Matusin SNI et al.
Plos One, 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
Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya.
Elmaihub ES et al.
The Libyan Journal of Medicine, 2024
Breast Cancer High-Penetrance Genes BRCA1 and BRCA2 Mutations Using Next-Generation Sequencing Among Iraqi Kurdish Women.
Hassan AN et al.
Cureus, 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
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.
Lechner A et al.
Frontiers in Oncology, 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
Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.
Youssef ASE et al.
Clinical and Experimental Medicine, 2023
Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan.
Muhammad N et al.
Hereditary Cancer in Clinical Practice, 2023
Frequencies of Diagnostically Significant Polymorphisms of Hereditary Breast Cancer Forms in BRCA1 and BRCA2 Genes in the Kazakh Population.
Svyatova G et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2023
CLINICAL SIGNIFICANCE OF BRCA1 GENE SEQUENCING AND ITS PROMOTER METHYLATION TESTING IN THE SEARCH STRATEGY FOR THERAPEUTIC TARGETS IN BREAST CANCER TREATMENT.
Fishchuk L et al.
Experimental Oncology, 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
Understanding DNA Damage Response and DNA Repair in Multiple Myeloma.
Petrilla C et al.
Cancers, 2023
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
Tung N et al.
Npj Precision Oncology, 2023
Mutations of BRCA1, BRCA2, and PALB2 Genes in Breast Tumor Tissue: Relationship with the Effectiveness of Neoadjuvant Chemotherapy and Disease Prognosis.
Tsyganov MM et al.
Genes, 2023
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Boga I et al.
European Journal of Breast Health, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 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
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
Rweyemamu LP et al.
Cancer Medicine, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.
Matta BP et al.
Scientific Reports, 2022
Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.
Sumazin P et al.
Journal of Hepatology, 2022
Screening of BRCA1/2 variants in Mauritanian breast cancer patients.
Brahim SM et al.
Bmc Cancer, 2022
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.
Secondino A et al.
Genes, 2022
Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.
Waldenmaier M et al.
Cancers, 2022