Karen A. Pooley

The paper analyzes POT1 variants in a melanoma case-control cohort, finding that pathogenic variants are a minor contributor to melanoma risk but should be screened in high-risk individuals.

This study fine-maps 150 breast cancer risk regions to identify 178 high confidence target genes using genomic and functional annotations.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.