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Katherine L. Nathanson, MD

Pearl Basser Professor of BRCA-Related Research
Medicine, Translational Medicine and Human Genetics
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.

Newly diagnosed breast cancer patients often wonder whether their risk of cancer was hereditary, if they should get genetic testing; and are their children at risk. These are important questions that are being pursued by Dr. Nathanson and her BCRF colleagues. Her work focuses on understanding the contribution of inherited gene mutations and breast cancer risk and to personalize treatment for patients based on family and tumor genetics.

Full Research Summary

The focus of Dr. Nathanson's BCRF-supported 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, Dr. Nathanson uses 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). 

These studies have led to the characterization of the frequency of mutations in high and moderate penetrance genes, their distribution around the world, and the penetrance and risk of cancers associated with these mutations. Their studies in inherited BRCA1 and BRCA2 mutations has demonstrated that a subset of mutation carriers do not respond to platinum-based drugs and may be more likely to respond to immunotherapy. 

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.


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.

Large Researcher Headshot - Nathanson Katherine

BCRF Investigator Since


Area(s) of Focus