Associated Papers
Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.
Uttarilli A et al.
Discover Oncology, 2026
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.
Buckley KH et al.
Biorxiv : the Preprint Server for Biology, 2025
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
Trinh MN et al.
The Oncologist, 2025
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.
Feszak S et al.
Cancers, 2025
Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.
Williams MJ et al.
Nature Genetics, 2024
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.
Tuncer SB et al.
Pathology, Research and Practice, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.
Herold N et al.
Cancer Medicine, 2023
HRD Testing of Ovarian Cancer in Routine Practice: What Are We Dealing With?
Kekeeva T et al.
International Journal of Molecular Sciences, 2023
New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.
Gajda-Walczak A et al.
Scientific Reports, 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
Urinary DNA as a Tool for Germline and Somatic Mutation Detection in Castration-Resistant Prostate Cancer Patients.
Januskevicius T et al.
Biomedicines, 2023
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen V et al.
Oncology Letters, 2022
Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.
Ostrowska M et al.
Journal of Genomics, 2022
Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.
Jürgens H et al.
Frontiers in Genetics, 2022
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
Ridnõi K et al.
Molecular Genetics & Genomic Medicine, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Evaluation of Complete Pathological Regression after Neoadjuvant Chemotherapy in Triple-Negative Breast Cancer Patients with BRCA1 Founder Mutation Aided Bayesian A/B Testing Approach.
Kedzierawski P et al.
Diagnostics (basel, Switzerland), 2021
Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants.
Leitsalu L et al.
European Journal of Human Genetics : Ejhg, 2021
The spectrum of mutations predisposing to familial breast cancer in Poland.
Cybulski C et al.
International Journal of Cancer, 2019
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Nurmi A et al.
International Journal of Cancer, 2019
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
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Expression and mutations of BRCA in breast cancer and ovarian cancer: Evidence from bioinformatics analyses.
Wang Z et al.
International Journal of Molecular Medicine, 2018
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients.
Koczkowska M et al.
Cancers, 2018
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
Barnes-Kedar I et al.
Breast Cancer Research and Treatment, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Hoyer J et al.
Bmc Cancer, 2018
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K et al.
Jama Network Open, 2018
Establishment and Characterization of the Novel High-Grade Serous Ovarian Cancer Cell Line OVPA8.
Tudrej P et al.
International Journal of Molecular Sciences, 2018
BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.
Biswas K et al.
Nature Communications, 2018
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
Heramb C et al.
Hereditary Cancer in Clinical Practice, 2018
BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
Kowalik A et al.
Plos One, 2018
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical Trial.
Hahnen E et al.
Jama Oncology, 2017
Co-Occurrence of COMT and BRCA1/2 Variants in a Population.
Movassagh M et al.
The New England Journal of Medicine, 2017