Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
Clinical sequencing reveals diagnostic, therapeutic, and prognostic biomarkers for adult-type diffuse gliomas.
Li Z et al.
Heliyon, 2024
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 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
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells.
Li H et al.
Nature Biomedical Engineering, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.
Wei Y et al.
Molecular Oncology, 2023
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Yamazawa K et al.
Cancer Science, 2023
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Boga I et al.
European Journal of Breast Health, 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
Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.
Madariaga A et al.
Nature Communications, 2023
Long-term response to camrelizumab in a pretreated metastatic mixed testicular germ-cell tumor patient with co-mutations in DNA damage-repair genes.
Zhang H et al.
Immunotherapy, 2023
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.
Liu P et al.
The Journal of Biological Chemistry, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Germline pathogenic variants in unselected Korean men with prostate cancer.
So MK et al.
Investigative and Clinical Urology, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of CHEK2, BRCA2, and RB1.
Liu TT et al.
Cancers, 2022
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers.
Lee J et al.
Scientific Reports, 2022
Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
Ivanov M et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2022
BRCA 1/2 Germline Mutation Predicts the Treatment Response of FOLFIRINOX with Pancreatic Ductal Adenocarcinoma in Korean Patients.
Park JH et al.
Cancers, 2022
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?
Chang TY et al.
Diagnostics (basel, Switzerland), 2021
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021