Marı́a Elena Martı́nez

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 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.

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.