Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPI.
Stewart R et al.
Biorxiv : the Preprint Server for Biology, 2026
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.
Samigatova A et al.
Scientific Reports, 2026
Prevalence of Germline Variants in Breast, Ovarian, and Prostate Cancer in Uruguay.
Alzogaray V
Clinical Genetics, 2026
Insights from three decades of BRCA1/2 modeling in mice.
Darnold JS et al.
Nature Genetics, 2026
Comparative analysis of telomere length in peripheral blood of breast cancer BRCA1 mutation carriers and non-carriers.
Uttarilli A et al.
Discover Oncology, 2026
Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.
Mateu-Regué À et al.
Scientific Reports, 2026
Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation.
Skoczylas S et al.
Current Oncology (toronto, Ont.), 2025
The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in BRCA1.
Kotsopoulos J et al.
Current Oncology (toronto, Ont.), 2025
Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.
Livshun S et al.
Scientific Reports, 2025
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
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Johnatty SE et al.
American Journal of Human Genetics, 2025
RANKL and CSF-1 are elevated in periovulatory follicular fluid of BRCA1 mutation carriers and increase proinflammatory signaling in fallopian tube epithelial cells.
Kollara A et al.
Neoplasia (new York, N.y.), 2025
The deubiquitinating enzyme Cezanne stabilizes BRCA1 by counteracting APC/C and Ube2S-dependent Lys11-linked ubiquitination.
Wang L et al.
Plos Biology, 2025
Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.
Bodunova N et al.
Bmc Women's Health, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study.
Toss A et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
CHIMERA-DDR: A Machine Learning Framework for Classifying Heterogeneous Mismatch-Repair and Homologous-Recombination Deficiency Patterns in Prostate Cancer.
Sharma K 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
Medullary breast cancer and germline BRCA1 mutations: a possible criterion for genetic testing.
Apostol AI et al.
Hereditary Cancer in Clinical Practice, 2025
17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?
William D et al.
Esmo Gastrointestinal Oncology, 2025
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients.
Pócza T et al.
International Journal of Molecular Sciences, 2025
Pathogenic BRCA1 Mutations Disrupt Allosteric Control by BARD1.
Bhattacharjee A et al.
The Journal of Physical Chemistry. B, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
A Case Report of Synchronous Multicentric Breast Carcinoma With Biologically Discordant Phenotypes: Luminal A and Triple-Negative Subtypes.
Gmur MK et al.
Cureus, 2025
Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes.
Schwartz CJ et al.
Npj Breast Cancer, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025
Breast carcinomas associated with microglandular adenosis are linked to germline alterations in homologous recombination-deficiency genes.
Schwartz CJ et al.
Research Square, 2025
Pathogenic BRCA1 mutations disrupt allosteric control by BARD1.
Bhattacharjee A et al.
Biorxiv : the Preprint Server for Biology, 2025
Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.
Lara Gutierrez A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.
Goidescu IG et al.
International Journal of Molecular 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
5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.
Sokolenko AP et al.
Familial Cancer, 2025
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Johnatty SE et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment.
Scaglione GL et al.
Biomolecules, 2025