Associated Papers
Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.
Jinga DC et al.
International Journal of Molecular Sciences, 2025
Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location.
Young CC et al.
Frontiers in Oncology, 2025
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.
Block I et al.
Breast Cancer Research : Bcr, 2024
RediScore: Prospective validation of a pipeline for homologous recombination deficiency analysis.
Tsantikidi A et al.
Oncology Letters, 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
The emergence of Fanconi anaemia type S: a phenotypic spectrum of biallelic BRCA1 mutations.
Hughes T et al.
Frontiers in Oncology, 2023
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Hovland HN et al.
Familial Cancer, 2022
The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo.
Kostovska IM et al.
Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
Chirita-Emandi A et al.
Journal of Medical Genetics, 2021
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Chirita-Emandi A et al.
Scientific Reports, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.
Jakimovska M et al.
Breast Cancer Research and Treatment, 2018
Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center.
Apessos A et al.
Cancer Genetics, 2018
Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.
George A et al.
Scientific Reports, 2016