Diana Eccles

Genomic profiling of young-onset gBRCA1/2 breast cancer reveals distinct genomic landscapes and therapeutic implications for PARP and CDK4/6 inhibitor selection

This study compares genomic features of gBRCA1 and gBRCA2 breast cancers, finding distinct mutational patterns and therapeutic implications for PARP and CDK4/6 inhibitors.

Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

The paper develops a framework for classifying variants of reduced penetrance in cancer susceptibility genes to improve variant interpretation consistency.

Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

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

Common variants in breast cancer risk loci predispose to distinct tumor subtypes

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

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

This study identifies 32 new breast cancer susceptibility loci through GWAS, with associations varying by tumor subtype and genetic correlations among subtypes.

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

Shared heritability and functional enrichment across six solid cancers

This study quantifies genetic correlations between six solid cancers and other diseases using GWAS data, finding shared heritability and functional enrichment in regulatory regions.

Inherited BRCA1 epimutation as a novel cause of breast and ovarian cancer

The paper identifies inherited BRCA1 promoter hypermethylation as a novel cause of breast and ovarian cancer in two families without germline BRCA1/2 pathogenic variants.