Associated Papers
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
41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1
A targeted next-generation sequencing panel for identification of clinically relevant mutation profiles in solid tumours.
Das K et al.
Scientific Reports, 2025
40593313 (PubMed )
Supplement: 41598_2025_8039_MOESM1_ESM.xlsx › Supplementary_Table_S7
Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.
Bose M et al.
The Journal of Clinical Investigation, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A
Integrating functional proteomics and next generation sequencing reveals potential therapeutic targets for Taiwanese breast cancer.
Ku WC et al.
Clinical Proteomics, 2025
39844043 (PubMed )
Supplement: 12014_2025_9526_MOESM2_ESM.xlsx › ___1
Integrating genomic mutations and tumor-infiltrating lymphocytes improves prediction of response to trastuzumab-based adjuvant therapy in patients with HER2-positive breast cancer.
Lu S et al.
Cancer Drug Resistance (alhambra, Calif.), 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
41179686 (PubMed )
Supplement: Table2.xls › Sheet1
Benign polymorphisms in the BRCA genes with linkage disequilibrium is associated with cancer characteristics.
Lee KT et al.
Cancer Science, 2024
39394900 (PubMed )
Supplement: CAS-115-3973-s001.pdf
DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
Huang Y et al.
Nature Communications, 2024
39152168 (PubMed )
Supplement: 41467_2024_51557_MOESM2_ESM.pdf
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
38566028 (PubMed )
Supplement: 12885_2024_12089_MOESM2_ESM.xlsx › ACMG_Classification
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation
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
Sequencing-based functional assays for classification of BRCA2 variants in mouse ESCs.
Biswas K et al.
Cell Reports Methods, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3
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
37067535 (PubMed )
Supplement: CAS-114-2993-s001.pdf
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
36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2
Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.
Holzapfel N et al.
Journal of Gastrointestinal Oncology, 2023
Clinical Implications of BRCA Mutations in Advanced Biliary Tract Cancer.
Kim H et al.
Oncology, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
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
35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T3
Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
Li Y et al.
Bmc Cancer, 2022
36324133 (PubMed )
Supplement: 12885_2022_10160_MOESM1_ESM.xls › Sheet1
Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.
Xu M et al.
Genes, 2022
Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.
Shinde SD et al.
Acs Omega, 2022
Wnt/β-Catenin-Pathway Alterations and Homologous Recombination Deficiency in Cholangiocarcinoma Cell Lines and Clinical Samples: Towards Specific Vulnerabilities.
Scheiter A et al.
Journal of Personalized Medicine, 2022
36013219 (PubMed )
Supplement: jpm-12-01270-s001.zip › jpm-1799777-supplementary.pdf
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA2_inSilico_PCs___AGVGD
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM1_ESM.docx
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1
Perspectives on the role of breast cancer susceptibility gene in breast cancer.
Wu N et al.
International Journal of Clinical Oncology, 2022
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