Jeffrey N. Weitzel

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

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

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

A personalized ctDNA test achieves high accuracy for residual disease detection after neoadjuvant therapy in breast cancer.

The paper identifies three novel common breast cancer risk variants at the 6q25 locus in Latinas and replicates their association in diverse populations.