Kara N. Maxwell

This study evaluates cancer-specific polygenic risk scores (PRS) across diverse ancestries and finds they predict corresponding cancers with varying effectiveness and limited pleiotropy.

This study reports a 5.4% rate of pathogenic germline variants in a racially diverse cohort of prostate cancer patients, with significant associations between PGV rates and age at diagnosis and self-identified race.

This study compares genomic and immunologic features of germline TP53-driven breast cancers to sporadic breast cancers, finding distinct patterns of genomic instability and immune infiltration.

This study shows that p53 variants with R181 mutations retain mitochondrial apoptosis function but lose DNA binding cooperativity, leading to reduced cancer risk.

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

This study finds BRCA1 and BRCA2 carriers have increased DNA damage and growth in gastric epithelium and organoids, suggesting haploinsufficiency contributes to early gastric cancer development.

This paper shows the HOXB13 p.G84E variant increases prostate cancer risk by threefold in men, but does not lead to more aggressive cancer.

This study identifies GGPP, a mevalonate pathway byproduct, as critical for chemoresistance in TP53mut AML through ROS regulation and mitochondria stress response, suggesting statin-based therapies could be effective.

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.

This study analyzes genomic alterations in metastatic prostate cancer patients across racial groups, finding race-associated differences in mutation frequencies and survival outcomes.

The paper identifies how germline and somatic mutations interact to cause resistance to CDK4/6 inhibitors in breast cancer and proposes a sequential treatment strategy using PARP inhibitors.

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

HRDex calculates HRD scores from whole exome sequencing data to identify BRCA-deficient tumors, showing high accuracy in breast cancer and moderate in ovarian cancer.

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

This study uses Mendelian randomization to assess the causal relationship between plasma lipid levels and breast cancer risk, finding that higher HDL levels are associated with increased breast cancer risk.