This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

medRxiv · Oct 27, 2023 · PreprintGenetic & Genomic Medicine

Genetically Adjusted PSA Levels for Prostate Cancer Screening

Linda Kachuri, Thomas J. Hoffmann, Yu Jiang, Sonja I. Berndt, John P. Shelley, Kerry Roe Schaffer, Mitchell J. Machiela, Neal D. Freedman, Wen‐Yi Huang, Shengchao A. Li, Ryder Easterlin, Phyllis J. Goodman, Cathee Till, Ian Murchie Thompson, Hans G. Lilja, , John S. Witte

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

Nature Medicine · Jun 1, 2023Peer-reviewedGenetic & Genomic Medicine

Assessment of Genetic Susceptibility to Multiple Primary Cancers through Whole-Exome Sequencing in Two Large Multi-Ancestry Studies

Taylor B. Cavazos, Linda Kachuri, Rebecca E. Graff, Jovia L. Nierenberg, Khanh K. Thai, Stacey Alexeeff, Stephen K. Van Den Eeden, Douglas A. Corley, Lawrence H. Kushi, Thomas J. Hoffmann, Elad Ziv, Laurel A. Habel, Eric Jorgenson, Lori C. Sakoda, John S. Witte

This study identifies 22 genetic variant-phenotype associations linked to multiple primary cancers using whole-exome sequencing in two large multi-ancestry cohorts.

medRxiv · Feb 11, 2022 · PreprintGenetic & Genomic Medicine

Cross-Cancer Evaluation of Polygenic Risk Scores for 17 Cancer Types in Two Large Cohorts

Rebecca E. Graff, Taylor B. Cavazos, Khanh K. Thai, Linda Kachuri, Sara R. Rashkin, Joshua Hoffman, Stacey Alexeeff, Maruta A. Blatchins, Travis J. Meyers, Lancelote Leong, Caroline Gar-Ling Tai, Nima C. Emami, Douglas A. Corley, Lawrence H. Kushi, Elad Ziv, , Lori C. Sakoda

This study evaluates polygenic risk scores across 17 cancer types in two large cohorts, identifying cross-cancer associations and non-cancer phenotype links.

Nature Communications · Feb 12, 2021Peer-reviewedGenetics

Association Study of Over 200,000 Subjects Detects Novel Rare Variants, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility

Nima C. Emami, Taylor B. Cavazos, Sara R. Rashkin, Clinton L. Cario, Rebecca E. Graff, Caroline Gar-Ling Tai, Joel Mefford, Linda Kachuri, Eunice Wan, Simon Wong, David S. Aaronson, Joseph C. Presti, Laurel A. Habel, Jun Shan, Dilrini K. Ranatunga, , John S. Witte

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

Cancer Research · Dec 8, 2020Peer-reviewedGenomics

Pan-Cancer Study Detects Novel Genetic Risk Variants and Shared Genetic Basis in Two Large Cohorts

Sara R. Rashkin, Rebecca E. Graff, Linda Kachuri, Khanh K. Thai, Stacey Alexeeff, Maruta A. Blatchins, Taylor B. Cavazos, Douglas A. Corley, Nima C. Emami, Joshua Hoffman, Eric Jorgenson, Lawrence H. Kushi, Travis J. Meyers, Stephen K. Van Den Eeden, Elad Ziv, , John S. Witte

The paper conducts pan-cancer GWAS in two cohorts, identifying novel risk variants and shared genetic basis across 18 cancer types.

Nature Communications · Sep 4, 2020Peer-reviewedGenetics

Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

Hanna Maria Ollila, Eilon Sharon, Ling Lin, Nasa Sinnott-Armstrong, Aditya Ambati, Ryan P. Hillary, Otto Jolanki, Juliette H. Faraco, Mali A. Einen, Guo Luo, Jing Zhang, Fang Han, Han Yan, Xiao Song Dong, Jing Li, , Emmanuel Jean-Marie Mignot

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.

bioRxiv · Jul 22, 2018 · PreprintGenetics