Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implications
Mutation Research · 2026
Flagship research programme
Cancer Genetics & Genomics
From inherited cancer susceptibility to tumor genomics, liquid biopsy and precision oncology.
Equal strategic prominence with Rare Disease Genetics & Genomics.
4 research themes · 10 publication records · 2 projects
Theme 1
Hereditary Cancer & Cancer Predisposition
Germline predisposition, multigene testing, population-specific variants, penetrance and risk interpretation, and genetic counselling.
Work in this theme
Hereditary-cancer panel cohorts, BRCA-related prognostic analyses, monoallelic NTHL1 risk assessment in a large Turkish cohort, and the variant spectrum and counselling implications of monoallelic RAD51C, RAD51D and BRIP1 findings.
Publications (4)
Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort
Familial Cancer · 2026
Effects of BRCA variation on prognosis in patients with nonmetastatic breast cancer
Annals of Human Genetics · 2024
Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling
Mutation Research · 2023
Theme 2
Tumor Genomics & Precision Oncology
Somatic molecular profiling, clinically actionable alterations, tissue-based testing and translational biomarkers.
Work in this theme
Somatic clinical capability including tumour BRCA1/2 analysis from tissue, translational biomarker work in cervical neoplasia, and the solid-tumour molecular portfolio.
Publications (2)
PRR11 expression in early ER+/HER2-low breast cancer: Association with estrogen receptor positivity and exploratory analysis of prognostic significance
Oncology Letters · 2026
Unveiling Mitochondrial DNA Copy Number Alterations: Insights into Progression from Cervical Intraepithelial Neoplasia to Cervical Cancer
Oncology Letters · 2026
Theme 3
Liquid Biopsy & Circulating Tumor DNA
Plasma ctDNA/cfDNA profiling, targeted digital PCR and translational assay development.
Work in this theme
TP53 somatic mutation prevalence from liquid biopsy in non-small-cell lung cancer, cell-free DNA extraction kit design and clinical validation, ESR1 testing by droplet digital PCR, and targeted plasma NGS capability.
Publications (2)
Design, Development, and Clinical Validation of a Novel Kit for Cell-Free DNA Extraction
Diagnostics · 2025
Higher TP53 somatic mutation prevalence from liquid biopsy analysis in ever smoker non-small-cell lung cancer patients
Mutation Research · 2024
Theme 4
Hematologic Malignancy Genomics
Myeloid and lymphoid molecular genomics, risk stratification, clonality, fusions and targeted biomarkers.
Work in this theme
Chronic lymphocytic leukaemia and acute myeloid leukaemia cohorts alongside a clinical portfolio covering myeloid and CLL NGS, IGHV somatic hypermutation, B- and T-cell receptor repertoire and clonality, leukaemia/lymphoma NGS including fusions, and JAK2/CALR/MPL testing.
Publications (2)
Comparative prognostic performance of ELN 2022 and ELN 2024 risk classifications in a Turkish cohort of acute myeloid leukemia patients receiving hypomethylating agents and BCL-2 inhibitors
Acta Medica · 2026
Prognostic Impact of Serum Albumin Levels at Diagnosis in Patients with Chronic Lymphocytic Leukemia
Journal of Clinical Medicine · 2026
Projects in this programme
All projectsDevelopment of a Domestic Hereditary Cancer Panel
Cancer Genetics
Cell-Free DNA Isolation and Capture Kit – Safecap 2.0
Cancer Genetics
Related clinical genomics capability
Full spectrumResearch and diagnostic service are described separately. These pages set out the department’s clinical capability and are informational only.
- Hereditary Cancer Genomics Germline cancer-predisposition testing and interpretation.
- Solid Tumor Genomics Somatic molecular profiling for solid tumours.
- Hematologic Malignancies Genomic and molecular testing for myeloid and lymphoid neoplasms.
- Liquid Biopsy Plasma-based circulating tumour DNA and cell-free DNA testing.