Georgia Chenevix‐Trench

This study identifies two cell-of-origin-driven subtypes of BRCA1-associated TNBC, showing that tumor subtype depends on the cell type initiating the cancer.

The paper uses case-control data from over 400,000 women to classify BRCA1 and BRCA2 variants, finding high consistency with ClinVar annotations for 785 previously unclassified variants.

This study identifies secondary splice-site mutations in BRCA1 that drive exon skipping and PARP inhibitor resistance in ovarian and breast cancer.

The paper uses pooled CRISPR screens to identify breast cancer risk genes affecting T cell-mediated killing, finding 33 candidates and showing their impact on immune response and patient outcomes.

This study examines differences in polygenic risk score distributions across European populations and shows how country-specific calibration can improve breast cancer risk prediction.

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

The paper identifies breast cancer risk variants associated with tumor subtypes and shows their differential effects on luminal and non-luminal subtypes.

This study improves transcriptome-wide association studies by integrating pleiotropy-guided methods with GWAS data to identify new cancer susceptibility genes.

The paper analyzes rare copy number variants (CNVs) in breast cancer cases and controls, identifying associations with known and novel susceptibility loci.

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.

The paper maps chromatin interactions at 139 breast cancer risk signals using Capture Hi-C and identifies candidate target genes and functional mechanisms.

The paper identifies 14 genes, including NTN4, associated with breast cancer risk variants through allelic expression imbalance analysis.