Faculty & Staff

Katherine L. Nathanson, MD

faculty photo
Professor of Medicine
Member, Abramson Cancer Center, University of Pennsylvania
University Associate/Attending Physician, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia
Member, Center for Research on Reproduction and Women's Health, University of Pennsylvania
Member, Center of Excellence in Environmental Toxicology, University of Pennsylvania
Member, Institute for Translational Medicine and Therapeutics, University of Pennsylvania
Co-Leader, Cancer Control Program, Abramson Cancer Center, University of Pennsylvania
Director of Genetics, Basser Research Center, Perelman School of Medicine at the University of Pennsylvania
Chief Oncogenomics Physician, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
Associate Director for Population Sciences, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
Department: Medicine

Contact information
421 Curie Blvd
University of Pennsylvania
Philadelphia, PA 19104
Office: 215-662-4740
B.A. (Biology)
Haverford College, Haverford, PA, 1987.
University of Pennsylvania School of Medicine, Philadelphia, PA, 1993.
Post-Graduate Training
Intern in Medicine , Beth Israel Hospital, Boston MA, 1993-1994.
Resident in Medicine, Beth Israel Hospital, Boston MA, 1994-1996.
Chief Resident in Medicine, West Roxbury VA Hospital, Boston, MA, 1996-1996.
Fellow in Genetics, Children’s Hospital of Philadelphia, Hospital of the University of Pennsylvania, University of Pennsylvania School of Medicine, 1996-2000.
Post-doctoral fellow, University of Pennsylvania School of Medicine (Barbara Weber, MD, Cancer Genetics), 1997-2001.
American Board of Internal Medicine, 1996.
American Board of Medical Genetics, Clinical Genetics, Recertification 2009 , 1999.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Research Expertise

Dr. Nathanson’s research focuses on the genetics of human cancer, both germline changes which confer susceptibility to cancer and somatic genetic changes associated with outcome.

Her research projects fall into several areas:

1) Identification and characterization of germline genetic changes associated with breast cancer susceptibility. These projects utilize two sample sets, a large clinical database of high risk breast cancer patients and a case-control study of white and black patients with breast cancer. Currently the projects in the laboratory focus on resequencing of BRCA1-associated genes as candidate breast cancer susceptibility genes in patients with high risk breast cancer and studying copy number variation as associated with potential susceptibility to high risk breast cancer in families with multiple cases of breast cancer.

2) Identification of genetic changes associated with testicular cancer susceptibility in case-control sample set. Dr. Nathanson recently completed a successful genome wide association study in testicular cancer, and is in the process of designing and doing a number of follow-up studies.

3) Identification of somatic genetic markers in melanoma as determinants of response to therapy. The projects in the laboratory focus on several aspects of melanoma genetics including genotyping patients to determine targeted therapy selection, using genetics and genomics to sub-set melanomas, as well as understand response to therapy, and identify novel genes important in melanoma progression.

Selected Publications

Pathak A, Stewart DR, Faucz FR, Xekouki P, Bass S, Vogt A, Zhang X, Boland J, Yeager M, Loud JT, Nathanson KL, McGlynn KA, Stratakis CA, Greene MH, Mirabello L: Rare inactivating PDE11A variants associated with testicular germ cell tumors. Endocr Relat Cancer 22(6): 909-17, Dec 2015.

Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J : Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes. Brief Bioinform Sep 2015 Notes: [Epub ahead of print]

Maxwell KN, Wubbenhorst B, D’Andrea K, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL: Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2 negative patients with early onset breast cancer. Genet Med 17(8): 630-648, Aug 2015.

Margolis DJ, Mitra N, Kim B, Gupta J, Hoffstad OJ, Papadopoulos M, Wubbenhorst B, Nathanson KL, Duke JL, Monos D, Kamoun M: Association of HLA-DRB1 genetic variants with the persistence of atopic dermatitis. Hum Immunol Aug 2015 Notes: [Epub ahead of print]

Wilson MA, Zhao F, Khare S, D'Andrea K, Wubbenhorst B, Roszik J, Woodman SE, Rimm DL, Kirkwood JM, Kluger HM, Schuchter LM, Lee SJ, Flaherty KT, Nathanson KL: Copy number changes are associated with response to treatment with carboplatin, paclitaxel, and sorafenib in melanoma. Clin Cancer Res Aug 2015 Notes: Epub ahead of print.

Amaravadi RK, Hamilton KE, Ma X, Piao S, Del Portillo A, Nathanson KL, Carlino MS, Long GV, Puzanov I, Xu X, Morrissette JD, Tsai KY, Flaherty KT, Sosman J, Goodman GR, McArthur GA, Rustgi AK, Metz DC, Schuchter LM, Chapman PB, Seuplveda AR: Multiple gastrointestinal polyps in patients treated with BRAF inhibitors. Clin Cancer Res Jul 2015 Notes: [Epub ahead of print]

Villaruz LC, Huang G, Romkes M, Kirkwood JM, Buch SC, Nukui T, Flaherty KT, Lee SJ, Wilson MA, Nathanson KL, Benos PV, Tawbi HA: MicroRNA expression profiling predicts clinical outcome of carboplatin/paclitaxel-based therapy in metastatic melanoma treated on the ECOG-ACRIN trial E2603. Clin Epigenetics 4(7): 58, Jun 2015.

Bradbury AR, Patrick-Miller L, Long J, Powers J, Stopfer J, Forman A, Rybak C, Mattie K, Brandt A, Chambers R, Chung WK, Churpek J, Daly MB, Digiovanni L, Farengo-Clark D, Fetzer D, Ganschow P, Grana G, Gulden C, Hall M, Kohler L, Maxwell K, Merrill S, Montgomery S, Mueller R, Nielsen S, Olopade O, Rainey K, Seelaus C, Nathanson KL, Domchek SM.: Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility. Genet Med 17(6): 485-492, Jun 2015.

Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD.: Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 372(23): 2243-245, Jun 2015.

Riff BP, Katona BW, Wilkerson M, Nathanson KL, Metz DC : HNPCC-Associated Pheochromocytoma: Expanding the Tumor Spectrum. Pancreas 44(4): 676-678, May 2015.

back to top
Last updated: 11/25/2015
The Trustees of the University of Pennsylvania