BRCA1 gene
Evidence from:
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all sources
Related entities (5)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| BRCA1 | risk_factor_for | breast cancer | — | 1 |
| BRCA1 | associated_with | cancer | — | 1 |
| BRCA1 | risk_factor_for | cancer | — | 1 |
| BRCA1 | risk_factor_for | ovarian cancer | — | 1 |
| COGS | associated_with | BRCA1 | — | 1 |
Mentioned in (106)
Papers in which this entity is mentioned.
- Genome modelling and design across all domains of life with Evo 2. (2026)
- Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types. (2026)
- Whole-genome landscapes of 1,364 breast cancers. (2026)
- Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort. (2026)
- FET fusion oncoproteins disrupt physiologic DNA repair and create a targetable opportunity for ATR inhibitor therapy. (2025)
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- Sequence modeling and design from molecular to genome scale with Evo. (2024)
- Recent advances in polygenic scores: translation, equitability, methods and FAIR tools. (2024)
- Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
- Analysis of 10,478 cancer genomes identifies candidate driver genes and opportunities for precision oncology. (2024)
- A New Era of Data-Driven Cancer Research and Care: Opportunities and Challenges. (2024)
- Combination of genomic instability score and TP53 status for prognosis prediction in lung adenocarcinoma. (2023)
- Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types from 10,983 cancer patients (2023)
- Heritable defects in telomere and mitotic function selectively predispose to sarcomas. (2023)
- Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers. (2023)
- Towards understandings of serine/arginine-rich splicing factors. (2023)
- RNA splicing dysregulation and the hallmarks of cancer. (2023)
- Mapping clustered mutations in cancer reveals APOBEC3 mutagenesis of ecDNA. (2022)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- Single-cell genomic variation induced by mutational processes in cancer. (2022)
- Hand2 delineates mesothelium progenitors and is reactivated in mesothelioma. (2022)
- Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. (2021)
- Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors. (2021)
- Nanopore sequencing technology, bioinformatics and applications. (2021)
- Integrated Genomic Analysis Identifies Driver Genes and Cisplatin-Resistant Progenitor Phenotype in Pediatric Liver Cancer. (2021)
- Application of third-generation sequencing in cancer research. (2021)
- Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. (2021)
- Pan-cancer analysis of longitudinal metastatic tumors reveals genomic alterations and immune landscape dynamics associated with pembrolizumab sensitivity. (2021)
- Polygenic risk scores: from research tools to clinical instruments. (2020)
- Pan-cancer analysis of whole genomes. (2020)
- Distinct Classes of Complex Structural Variation Uncovered across Thousands of Cancer Genome Graphs. (2020)
- BioBERT: a pre-trained biomedical language representation model for biomedical text mining. (2020)
- Emerging Roles of SRSF3 as a Therapeutic Target for Cancer. (2020)
- Pan-cancer landscape of homologous recombination deficiency. (2020)
- Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
- Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
- Passenger hotspot mutations in cancer driven by APOBEC3A and mesoscale genomic features. (2019)
- Rare variant phasing using paired tumor:normal sequence data. (2019)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
- Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study. (2019)
- Germline variants associated with leukocyte genes predict tumor recurrence in breast cancer patients. (2019)
- Association of BRCA1- and BRCA2-deficiency with mutation burden, expression of PD-L1/PD-1, immune infiltrates, and T cell-inflamed signature in breast cancer. (2019)
- Structural variant calling: the long and the short of it. (2019)
- A Compendium of Mutational Signatures of Environmental Agents. (2019)
- Comprehensive analysis of structural variants in breast cancer genomes using single molecule sequencing (2019)
- Pan-cancer whole-genome analyses of metastatic solid tumours. (2019)
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. (2018)
- Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
- Molecular profiling and sequential somatic mutation shift in hypermutator tumours harbouring POLE mutations. (2018)
- EWS/FLI Confers Tumor Cell Synthetic Lethality to CDK12 Inhibition in Ewing Sarcoma. (2018)
- Patterns and mechanisms of structural variations in human cancer. (2018)
- Copy number signatures and mutational processes in ovarian carcinoma. (2018)
- OncoKB: A Precision Oncology Knowledge Base. (2017)
- HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures. (2017)
- Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. (2017)
- Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. (2017)
- A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
- Copy-number signatures and mutational processes in ovarian carcinoma (2017)
- Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. (2016)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- A role for human homologous recombination factors in suppressing microhomology-mediated end joining. (2016)
- Landscape of somatic mutations in 560 breast cancer whole-genome sequences. (2016)
- The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. (2016)
- Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
- GenVisR: Genomic Visualizations in R. (2016)
- Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. (2015)
- What is the DNA repair defect underlying Fanconi anemia? (2015)
- Integrative clinical genomics of advanced prostate cancer. (2015)
- Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. (2015)
- Germline Mutations in Predisposition Genes in Pediatric Cancer. (2015)
- Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks. (2014)
- MAGeCK enables robust identification of essential genes from genome-scale CRISPR/Cas9 knockout screens. (2014)
- Programming of neural cells by (endo)cannabinoids: from physiological rules to emerging therapies. (2014)
- Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. (2014)
- Involvement of p53 in the repair of DNA double strand breaks: multifaceted Roles of p53 in homologous recombination repair (HRR) and non-homologous end joining (NHEJ). (2014)
- Genetic variability in the regulation of gene expression in ten regions of the human brain. (2014)
- Clonal evolution in hematological malignancies and therapeutic implications. (2014)
- Exon identity crisis: disease-causing mutations that disrupt the splicing code. (2014)
- TITAN: inference of copy number architectures in clonal cell populations from tumor whole-genome sequence data. (2014)
- Cancer genome landscapes. (2013)
- Ewing sarcoma protein: a key player in human cancer. (2013)
- The sox family of transcription factors: versatile regulators of stem and progenitor cell fate. (2013)
- Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. (2013)
- Signatures of mutational processes in human cancer. (2013)
- Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (2013)
- Emerging landscape of oncogenic signatures across human cancers. (2013)
- RNA splicing: a new player in the DNA damage response. (2013)
- Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. (2013)
- Clustered mutations in yeast and in human cancers can arise from damaged long single-strand DNA regions. (2012)
- High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. (2012)
- Mutational processes molding the genomes of 21 breast cancers. (2012)
- Regulation of cancer progression by β-endorphin neuron. (2012)
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. (2012)
- BRCA1 and BRCA2: different roles in a common pathway of genome protection. (2011)
- A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. (2011)
- Statistical analysis strategies for association studies involving rare variants. (2010)
- Linking functional decline of telomeres, mitochondria and stem cells during ageing. (2010)
- Histone methylation regulates memory formation. (2010)
- Gene--environment-wide association studies: emerging approaches. (2010)
- Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. (2009)
- Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). (2009)
- Common and rare variants in multifactorial susceptibility to common diseases. (2008)
- 3' end mRNA processing: molecular mechanisms and implications for health and disease. (2008)
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
- MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. (2008)
Merged raw entities (1)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| brca1 | gene | 106 | 486 |