Katherine L. Nathanson
· MD, PhDUniversity of Pennsylvania · Rehabilitation Medicine
Active 1964–2026
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About
Katherine L. Nathanson, MD, is the Pearl Basser Professor for BRCA-Related Research at the Abramson Cancer Center of the University of Pennsylvania. She is a member of multiple research centers including the Center for Research on Reproduction and Women's Health, the Center of Excellence in Environmental Toxicology, and the Institute for Translational Medicine and Therapeutics at the University of Pennsylvania. Dr. Nathanson serves as the Director of Genetics at the Basser Research Center and is the Deputy Director of the Abramson Cancer Center. Her research expertise focuses on hereditary breast and ovarian cancer, with her group investigating the variable risks associated with different mutation types and locations in BRCA1 and BRCA2, as well as the distribution of these mutations worldwide. She has contributed to understanding tumor heterogeneity, immunogenicity in BRCA mutation-associated cancers, and the genetic basis of testicular germ cell tumors, among other areas. Her work includes identifying novel susceptibility genes, characterizing tumor genetics, and elucidating mechanisms of resistance and response to cancer therapies.
Research topics
- Biology
- Genetics
- Medicine
- Oncology
- Computer Science
- Computational biology
- Environmental health
- Internal medicine
- Political Science
- Bioinformatics
Selected publications
A Population-Based Study of Genes Previously Implicated in Breast Cancer
New England Journal of Medicine · 2021 · 851 citations
BACKGROUND: Population-based estimates of the risk of breast cancer associated with germline pathogenic variants in cancer-predisposition genes are critically needed for risk assessment and management in women with inherited pathogenic variants. METHODS: In a population-based case-control study, we performed sequencing using a custom multigene amplicon-based panel to identify germline pathogenic variants in 28 cancer-predisposition genes among 32,247 women with breast cancer (case patients) and…
Nature Communications · 2020 · 131 citations
Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fourteen cancer sites to estimate the number of common susceptibility variants (polygenicity) and underlying effect-size distribution. All cancers show a high degree of polygenicity, involving at a minimum of thousands of loci. We project that sample si…
Nature Communications · 2021 · 108 citations
Development of candidate cancer treatments is a resource-intensive process, with the research community continuing to investigate options beyond static genomic characterization. Toward this goal, we have established the genomic landscapes of 536 patient-derived xenograft (PDX) models across 25 cancer types, together with mutation, copy number, fusion, transcriptomic profiles, and NCI-MATCH arms. Compared with human tumors, PDXs typically have higher purity and fit to investigate dynamic driver e…
Genetics in Medicine · 2020 · 58 citations
Senior authorCorrespondingTechnologies in genomic medicine have rapidly evolved and transformed the ability to deliver precision medicine in nearly every field of health care. As genomic medicine has advanced, the electronic health record (EHR) has simultaneously been adopted into routine practice. A recent Points to Consider Statement by the American College of Medical Genetics and Genomics (ACMG) provides a framework for the optimal integration of genomic data into the EHR.1.Grebe T.A. et al.The interface of genomic in…
Nature Communications · 2021 · 39 citations
, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
Recent grants
Radiation and checkpoint blockade for cancer immune therapy
NIH · $18.3M · 2017–2024
Post genome wide association studies in testicular germ cell tumors
NIH · $11.7M · 2012–2026
Postdoctoral Training Program in Genomic Medicine
NIH · $3.7M · 2017–2027
Frequent coauthors
- 1012 shared
Susan M. Domchek
University of Pennsylvania
- 763 shared
Fergus J. Couch
Mayo Clinic in Arizona
- 483 shared
Esther M. John
Public Health Ontario
- 477 shared
Paolo Radice
- 421 shared
Olufunmilayo I. Olopade
- 413 shared
Christian F. Singer
Comprehensive Cancer Center Vienna
- 406 shared
Irene L. Andrulis
Lunenfeld-Tanenbaum Research Institute
- 398 shared
Susan L. Neuhausen
Awards & honors
- Pearl Basser Professor for BRCA-Related Research at the Abra…
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