Nicholas James Boddicker

Genetic and Cellular Architecture of Breast Cancer Risk Across Ancestries

This study analyzes breast cancer GWAS across multiple ancestries, finding similar heritability and genetic correlations, and identifies shared regulatory and cellular contexts.

Meta-analysis of genome-wide association studies of doxorubicin-induced arrhythmia identifies MMP16 and KCTD15 as risk loci

This study identifies genetic risk loci for doxorubicin-induced arrhythmia through GWAS meta-analysis and validates their functional relevance in human and zebrafish models.

Functional Evaluation of TRPC6 Missense Variants in Cancer Patients via Molecular Docking Analysis Compared with Patch Clamp Electrophysiology

This study evaluates TRPC6 missense variants in cancer patients using molecular docking and patch clamp electrophysiology to predict functional impact and guide clinical decisions.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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.

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

This study evaluates breast cancer risks associated with pathogenic variant type and location in BRCA2 and other genes, finding differential risks based on variant position.

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.

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.