Esther M. John

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

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

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.

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

This paper develops polygenic risk scores for breast cancer prediction in women of African ancestry by combining African and European ancestry datasets, improving prediction accuracy.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

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 assesses how the performance of an African-ancestry-specific polygenic hazard score varies with local ancestry in 8q24 using genetic data from 6,253 men with African ancestry.

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

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 improves a polygenic hazard score for prostate cancer age at diagnosis by adding SNPs specific to African ancestry, enhancing performance in this population.

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

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.