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BCRF Grantee Since


Donor Recognition

The Tanger Outlets Award

Area(s) of Focus

Katherine L. Nathanson, MD

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

Current Research

The focus of Dr. Nathanson’s BCRF research is on understanding the contribution of mutations in multiple genes to breast cancer susceptibility.  While some of her research involves BRCA1 and BRCA2, the most commonly mutated genes in hereditary breast cancer, much of her current work centers on understanding the role of other genes. Although mutations in these genes are associated with lower risk than BRCA1 or BRCA2, commercially available tests are now avaialble through a number of clinical genetic testing laboratories without a true understanding of the risk of mutations in these genes, both for breast and other cancers.  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 strong family history). Additional ongoing studies with BCRF colleagues Fergus Couch (Mayo Clinic, Rochester, MI), Kenneth Offit (Memorial Sloan Kettering Cancer Center, New York), James Ford (Stanford University) and Judy Garber (Dana Farber Cancer Institute, Boston, MA) are simultaneously assessing high risk breast cancer families to identify new breast cancer susceptibility genes.  In the coming year, they will continue to evaluate the association of specific types of genetic changes in BRCA1 and BRCA2 with cancer risk.  Results of these studies will significantly inform our understanding of hereditary breast cancer.


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.