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
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Whole-genome landscapes of 1,364 breast cancers.
Kim R et al.
Nature, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Patient-derived tumoroids recapitulate the morphologic and molecular features of pediatric brain tumors.
Soares-Ferreira B et al.
Npj Precision Oncology, 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
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
Ekram SN et al.
Discover Oncology, 2025
Population-based study of recurrent DNA damage response gene variants in breast cancer cases.
Tervasmäki A et al.
Breast Cancer Research and Treatment, 2025
Insights From Nonsense-Mediated mRNA Decay for Prognosis in Homologous Recombination-Deficient Ovarian Cancer.
Han L et al.
Cancer Science, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
Kim JA et al.
Experimental & Molecular Medicine, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.
Zhou N et al.
Journal of Translational Medicine, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital.
Kim JW et al.
Scientific Reports, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.
Sarmadi A et al.
Advanced Biomedical Research, 2025
Beyond HRD Status: Unraveling Genetic Variants Impacting PARP Inhibitor Sensitivity in Advanced Ovarian Cancer.
Kjeldsen MK et al.
Cancer Research Communications, 2024
Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.
Morgan RD et al.
British Journal of Cancer, 2024
Fanconi Anemia: Challenges in Diagnosis and Management-A Case Series Report.
Eghbali A et al.
Clinical Case Reports, 2024
Cancer risk assessment of premalignant breast tissues from patients with BRCA mutations by genome profiling.
Hirose T et al.
Npj Breast Cancer, 2024
Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.
Hrudka J et al.
Scientific Reports, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
On the Boundary of Exploratory Genomics and Translation in Sequential Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2024
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
Hinić S et al.
Jnci Cancer Spectrum, 2024
Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ et al.
The British Journal of Ophthalmology, 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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024