Susan L. Neuhausen

The paper identifies three TNBC subtypes based on spatial transcriptomics and cellular mapping, revealing distinct tumor microenvironment architectures and potential therapeutic targets.

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

The paper analyzes somatic mutations and transcriptional profiles in breast tumors from 748 Hispanic/Latina women, finding differences in tumor immune microenvironment ecotypes linked to ancestry and APOBEC3A/B copy-number deletions.

This paper develops a germline polygenic score (PRSagg) to predict prostate cancer aggressiveness and validates it across multiple datasets.

The paper identifies CeD-specific TCRs in peripheral blood that classify celiac disease independently of gluten intake, showing higher predictive power than traditional TCRs.

This paper identifies three subtypes of TNBC based on transcriptomic profiles and cell-type composition, linking them to potential therapeutic targets and clinical outcomes.

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 develops a polygenic risk model for prostate cancer using VA data and validates it in external cohorts, showing its clinical utility in risk stratification.

The paper updates the COSMIC database and identifies SBS39 as a new homologous recombination deficiency signature.

The paper improves prostate cancer risk stratification across multiple ancestries using a new polygenic hazard score with additional SNPs, showing higher hazard ratios and positive predictive value for clinically significant prostate cancer.

The paper develops adVNTR-NN to genotype VNTRs efficiently and identifies eVNTR loci associated with gene expression in multiple tissues.

This study evaluates a polygenic hazard score in multi-ethnic populations and finds it is associated with age at prostate cancer diagnosis, aggressive diagnosis, and death across European, Asian, and African ancestries.

This study improves a polygenic hazard score for prostate cancer by adding 120 SNPs, enhancing hazard ratios but not positive predictive value of PSA testing.

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.

This study uses Mendelian randomization to explore the bidirectional relationship between schizophrenia and epithelial ovarian cancer, and the causal effect of schizophrenia on glycerophosphocholine metabolites.

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

This study integrates a large prostate cancer GWAS with gene expression data to identify 235 genes associated with risk, prioritizing causal genes through Bayesian credible sets.