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Katherine L. Nathanson, MD

Professor, Department of Medicine
Co-Leader, Cancer Control and Prevention Program
Associate, Director for Population Sciences
Deputy Director, Abramson Cancer Center
Perelman School of Medicine
University of Pennsylvania
Philadelphia, Pennsylvania

Current Research

  • Seeking to improve breast cancer risk assessment in high-risk women.

  • Studies are conducted to evaluate breast cancers caused by mutations in uncommon breast cancer genes to gain insight into more personalized therapies.

  • These studies are advancing our understanding of the role of moderate penetrance gene mutations and how common variation influences breast cancer susceptibility.

The focus of Dr. Nathanson's BCRF research is on the contribution of mutations in multiple genes to breast cancer susceptibility. Although some of her research involves the most commonly mutated genes in hereditary breast cancer, BRCA1 and BRCA2, much of her current work centers on understanding the role of other, low to moderate penetrance genes.

Although mutations in these genes do not present the same level of risk as those in BRCA1 or BRCA2, commercially available tests are now available through a number of clinical genetic testing laboratories without a true understanding of the level of cancer risk imposed by the mutations.

Thus, the focus of Dr. Nathanson's BCRF research is to apply advanced DNA sequencing technologies to assess the contribution of the mutations in these genes to risk of disease in high-risk women (e.g., early-onset breast cancer, women with multiple primary cancers including breast cancer, and a strong family history).

Additional ongoing studies with BCRF colleagues Fergus Couch, Kenneth Offit, James Ford, and Judy Garber are simultaneously assessing high-risk breast cancer families to identify new breast cancer susceptibility genes. In the coming year, they will classify BRCA1 and BRCA2 breast cancers based on the likelihood they will respond to DNA damaging agents, like cisplatin and or immunotherapy. Results of these efforts will significantly inform our understanding of hereditary breast cancer and treatment options.


Dr. Nathanson is a cancer geneticist, boarded in Internal Medicine and Clinical Genetics; she runs a research laboratory and has a busy clinical practice. Currently she is Professor at the Perelman School of Medicine at the University of Pennsylvania, and at the Abramson Cancer Center is the co-Leader of the Cancer Control Program and Chief Oncogenomics Physician. Dr. Nathanson has had extensive experience with molecular genotyping and analysis of genetic variants in relationship to cancer susceptibility and somatic genetics of cancer. She runs a translational research laboratory and has had a long term interest and published extensively on breast cancer genetics on topics including the identification of novel breast cancer susceptibility genes, characterization of cohorts that carry mutations in BRCA1/2 and genetic modifiers of breast cancer penetrance in BRCA1/2 mutation carriers, among others. Dr. Nathanson is a key contributor to the development of a large collection of DNA and tissue samples from high-risk family breast cancer cohorts, participating in several national and international consortium, including the Consortium of Identifiers of Modifiers of BRCA1/2 (CIMBA) and Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA). She has had a longstanding interest in the identification and characterization of moderate to high penetrance breast cancer susceptibility genes, which is the focus of her BCRF funded project.

BCRF Investigator Since


Donor Recognition

The Estée Lauder Companies Brands Award in Memory of Evelyn H. Lauder

Area(s) of Focus