Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
Germline genomic profiling of patients with early-onset colorectal cancer.
Mauri G et al.
Esmo Gastrointestinal Oncology, 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
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 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
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
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
Locally Performed HRD Testing for Ovarian Cancer? Yes, We Can!
Magliacane G et al.
Cancers, 2022
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 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
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L et al.
Jama Network Open, 2022
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME et al.
American Journal of Human Genetics, 2021
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Fransson S et al.
Scientific Reports, 2020
Extreme responses to immune checkpoint blockade following bipolar androgen therapy and enzalutamide in patients with metastatic castration resistant prostate cancer.
Markowski MC et al.
The Prostate, 2020
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.
Wang J et al.
Cancer Medicine, 2019
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Hart SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.
Miller AM et al.
Nature, 2019
BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.
Deihimi S et al.
Oncotarget, 2017