Associated Papers
Whole-genome landscapes of 1,364 breast cancers.
Kim R et al.
Nature, 2026
Prevalence of germline BRCA1/2 pathogenic variants in unselected Korean patients with HER2-negative metastatic breast cancer: a nationwide prospective study (KCSG BR19-10).
Ahn HK et al.
The Lancet Regional Health. Western Pacific, 2025
Letter re: Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study: Ethnic difference in BRCT domain response to PARP inhibitor.
Kim JH et al.
Esmo Open, 2025
Response to letter re: Benefit from maintenance with PARP inhibitor in newly diagnosed ovarian cancer according to BRCA1/2 mutation type and site: a multicenter real-world study.
Marchetti C et al.
Esmo Open, 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 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
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Reversion of pathogenic BRCA1 L1780P mutation confers resistance to PARP and ATM inhibitor in breast cancer.
Jo SY et al.
Iscience, 2024
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
Clinical application of whole-genome sequencing of solid tumors for precision oncology.
Kim R et al.
Experimental & Molecular Medicine, 2024
Exploring the effect of BRCA1/2 status on chemotherapy-induced hematologic toxicity in patients with ovarian cancer.
Lee IH et al.
Cancer Chemotherapy and Pharmacology, 2024
Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.
Kim YJ et al.
The British Journal of Ophthalmology, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 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
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 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
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations.
Kim J et al.
Human Genomics, 2023
Genomic Signatures from Clinical Tumor Sequencing in Patients with Breast Cancer Having Germline BRCA1/2 Mutation.
Kim JW et al.
Cancer Research and Treatment, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
Nepomuceno TC et al.
Scientific Reports, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.
Kwon WK et al.
Cancer Genetics, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.
Bang YJ et al.
Cancer Research and Treatment, 2022
Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer.
McClurg DP et al.
Cancers, 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
Molecular Characterization of BRCA1 c.5339T>C Missense Mutation in DNA Damage Response of Triple-Negative Breast Cancer
Lee JD et al.
Cancers, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 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