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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
Goal: To improve breast cancer risk assessment in high-risk women.
Impact: Dr. Nathanson’s work is focused on identifying mutations in novel genes linked to higher risk of breast cancer and determining the level of risk the genes pose. Her findings could lead to personalized risk assessment and treatment for people who have these mutations.
What’s next: She and her team will launch a study of very high-risk women with early-onset breast cancer to identify what drives the risk of breast cancer in these women.
Mutations in the BRCA1 and BRCA2 genes are the most well-known mutations that increase a person’s risk of breast cancer. However, there are other breast cancer risk genes, though mutations in these are not as potent as BRCA mutations. Dr. Nathanson is conducting studies of these lesser-known gene mutations in order to understand just how much of a risk they pose to people who carry them.
Full Research Summary
Research area: Refining breast cancer risk assessment by understanding the role of moderate risk genes and common inherited gene variations in families with a high risk of breast cancer.
Impact: While breast cancer is not typically caused by inherited factors, as many as 10-15 percent of breast cancers are. The most common hereditary risk factors are mutations in the BRCA1 or BRCA2 genes, but these only account for 5-10 percent of hereditary breast cancers. Dr. Nathanson’s team is utilizing novel methods of gene sequencing to identify new breast cancer susceptibility genes and characterize known genes. The results of their studies will lead to a better understanding of hereditary breast cancer, specifically, the factors involved in an increased risk in patients with negative standard genetic testing results.
Current investigation: Dr. Nathanson is utilizing large scale genomic analysis to simultaneously assess mutations and variants in multiple genes associated with increased risk of breast cancer. These studies have demonstrated 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. They are assessing the risk associated with mutations and examining links with clinical characteristics.
What she’s learned so far: Dr. Nathanson’s team has shown that women with breast and another primary cancer have an increased likelihood of carrying a germline cancer susceptibility gene mutation and should have testing regardless of the age of breast cancer diagnosis.
What’s next: Her group will continue to expand their studies by analyzing large high-risk family cohorts to identify known and novel genes associated with breast cancer susceptibility and to identify the drivers of risk in high-risk breast cancer patients with no mutations in known predisposition 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.