Associated Papers
Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis.
Houlahan KE et al.
Ebiomedicine, 2026
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 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
Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.
Park YH 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
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.
Shin K et al.
Journal of Clinical Medicine, 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
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
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 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
Establishment and characterization of 24 breast cancer cell lines and 3 breast cancer organoids reveals molecular heterogeneity and drug response variability in malignant pleural effusion-derived models.
Kim SC et al.
Breast Cancer Research : Bcr, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan.
Ohneda K et al.
Journal of Human Genetics, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Real-world efficacy and toxicity of olaparib maintenance therapy in Korean ovarian cancer patients with an exploratory analysis of BRCA mutations.
Kim J et al.
Gynecologic Oncology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 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
Clinically Significant BRCA1 and BRCA2 Germline Variants in Breast Cancer-A Single-Center Experience.
Pleșea RM et al.
Cancers, 2024
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 2024
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
High-risk pathogenic germline variants in blood relatives of BRCA1/2 negative probands.
Yoshida R et al.
Breast Cancer (tokyo, Japan), 2024
Molecular analysis of BRCA1 and BRCA2 genes in La Rioja (Spain): five new variants.
Salazar Saez R et al.
Hereditary Cancer in Clinical Practice, 2024
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Clinical utility of BRCA and ATM mutation status in circulating tumour DNA for treatment selection in advanced pancreatic cancer.
Sudo K et al.
British Journal of Cancer, 2024
AcornHRD: an HRD algorithm highly associated with anthracycline-based neoadjuvant chemotherapy in breast cancer in China.
Pan JN et al.
European Journal of Medical Research, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
The Molecular Detection of Germline Mutations in the BRCA1 and BRCA2 Genes Associated with Breast and Ovarian Cancer in a Romanian Cohort of 616 Patients.
Grigore LG et al.
Current Issues in Molecular Biology, 2024
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human 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
Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.
Liu X et al.
Science Advances, 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
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 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
[Return of Individual Genomic Results to Germline Pathogenic Variant Carriers of Hereditary Cancer in Population Based Cohort Study].
Ohneda K
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 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
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024