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
Semi-Quantitative Evaluation of BRCA1 Protein in Breast Tumors Using Anti-BRCA1 Antibodies: Clinical Implications.
Anton SC et al.
International Journal of Molecular Sciences, 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
Predictive genomic medicine enlarges the spectrum of predisposing mutations for head and neck cancers via a panel of 56 genes selected for human neoplasia in Southern Italy: a pilot study.
Di Maggio F et al.
Clinical Chemistry and Laboratory Medicine, 2026
Primary and metastatic brain tumours in hereditary cancer syndromes: case reports with and literature review.
Robaczyńska J et al.
Hereditary Cancer in Clinical Practice, 2026
Long-term exposure to the ethanol-derived metabolite acetaldehyde elevates structural genomic alterations but not base substitutions.
Lózsa R et al.
Communications Biology, 2026
Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.
Samigatova A et al.
Scientific Reports, 2026
Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.
Bujassoum Al-Bader S et al.
Molecular Genetics & Genomic Medicine, 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
Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.
Jinga DC et al.
International Journal of Molecular Sciences, 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
The breakome of BRCA1 and BRCA2 pathway mutation carriers reveals early processes in breast oncogenesis.
Oster Flayshman S et al.
Cell Death & Disease, 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
Genetics and context for precision health in Greater Boston.
Koyama S et al.
Nature Communications, 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
The difference in contralateral breast cancer and ovarian cancer risks for BRCA1 founder variant (c.5266dup, c.4035del) carriers with primary breast cancer.
Loza P et al.
Bmc Cancer, 2025
Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.
Wu J et al.
Journal of Translational Medicine, 2025
A case series of newly described rare mesenchymal tumors of the knee and the role of molecular testing in their histopathological diagnosis.
Balko J et al.
Pathology, Research and Practice, 2025
Examining the Concordance of Detection of Hereditary Cancer Gene Variants Between Blood, Tumour, and Normal Tissue in Patients with High-Grade Serous Ovarian Carcinoma.
Mui L et al.
Genes, 2025
Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.
Martín-Bejarano P et al.
Breast Cancer Research : Bcr, 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
Breast biopsies and breast cancer risk in Israeli BRCA germline pathogenic variant carriers.
Madorsky Feldman D et al.
Breast Cancer Research and Treatment, 2025
Obstacles in genetic testing for germline BRCA1/2 pathogenic mutations in patients with primary breast and ovarian cancer in Switzerland.
Braun C et al.
Archives of Gynecology and Obstetrics, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 2025
A Differential Depth Sequencing Method, SPRE-Seq, for Enhancing Targeted Region Coverage in Hybridization Capture-Based NGS.
Chen HJ et al.
Engineering in Life Sciences, 2025
Molecular characterization of hereditary breast and ovarian cancer patients from a public precision medicine service in the Southeast Brazilian population.
Ribeiro AAF et al.
Scientific Reports, 2025
Healthy BRCA1/2 mutation carriers exhibit a pre-CAF signature and altered epithelial marker expression in breast tissue.
De Leonardis F et al.
Scientific Reports, 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
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 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
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Comprehensive Screening for Early Cancer Detection in Individuals With Genetic Predisposition.
Bodunova NA et al.
Jco Precision Oncology, 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
Prostate cancer germline variants with therapeutic implications.
Bitaraf M et al.
Trends in Molecular Medicine, 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
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.
Das K et al.
Scientific Reports, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.
Bilotta A et al.
Genes, 2025