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Katherine L. Nathanson, MD

Katherine L. Nathanson, MD Physician

Professor of Genetics
Professor of Medicine

Languages spoken:

  • French

Dr. Nathanson is a Penn Medicine employed physician.

Clinical Specialties


  • Medicine
    • Medical Genetics

Programs & Services:

  • Cancer
    • Basser Center for BRCA
  • Translational Medicine and Human Genetics

Board Certification:

  • Medical Genetics, 1999

Conditions & Treatments:

  • acoustic neuromas
  • Birt-Hogg-Dubé syndrome
  • cancer genetics
  • Genetic and Rare Diseases Treatments and Procedures
  • Genetic Counseling
  • genetic skin disease
  • Genetic Testing
  • hereditary cancer syndrome
  • hereditary papillary renal cancer
  • Klinefelter syndrome
  • Li-Fraumeni syndrome
  • medical genetics
  • neurofibromatosis
  • paragangliomas
  • pheocromocytoma/paragangliomas
  • schwannomatosis
  • tuberous sclerosis
  • von Hippel Lindau syndrome

Practice Locations and Appointments

Insurance Accepted

  • Aetna US Healthcare
  • Cigna
  • Cigna HealthSpring
  • Devon Health Services (Americare)
  • Gateway Health Plan
  • Geisinger Health Plan
  • HealthAmerica / HealthAssurance, a Coventry Plan
  • HealthPartners
  • HealthSmart
  • Highmark Blue Shield
  • Horizon Blue Cross Blue Shield of New Jersey
  • Humana / Choicecare
  • Independence Blue Cross (Keystone East)
  • Intergroup
  • Keystone First
  • Multiplan
  • NJ Medicaid
  • NJ Qualcare
  • Oxford Health Plan
  • PA Medicaid
  • PA Medicare
  • Preferred Care
  • Rail Road Medicare / Palmetto GBA
  • Tricare
  • United Healthcare
  • UnitedHealthcare Community Plan
  • US Family Health Plan

Education and Training

Medical School: University of Pennsylvania School of Medicine
Residency: Beth Israel Deaconess Medical Center
Fellowship: Children's Hospital of Philadelphia


American Association for Cancer Research, National American Association for the Advancement of Science, National American College of Medical Genetics, National American College of Physicians, National American Society for Clinical Investigation, National American Society for Human Genetics, National Breast Cancer Information Core Steering Committee, National Melanoma Research Breakthrough Consortium, National Movember GAP5 Translational Research Steering Committee (Testicular Cancer), International National Institutes of Health, Cancer Genetics Study Section, National National Institutes of Health, National Cancer Institute Loan Repayment Program Study Section, National National Institutes of Health, National Cancer Institute, National TCGA Pheochromocytoma/Paraganglioma Disease Working Group, National TCGA Testicular Germ Cell Tumor Working Group, National Cancer Institute, National Tuberous Sclerosis Alliance, National


Dr. Nathanson is a Penn Medicine employed physician.

Hospital Privileges:

  • Hospital of the University of Pennsylvania: Has privileges to treat patients in the hospital.


Research Interests:

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:

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

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): 909-17,2015.

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 : 2015.

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): 630-648,2015.

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 : 2015.

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 : 2015.

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 : 2015.

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): 58,2015.

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): 485-492,2015.

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): 2243-245,2015.

Academic Contact Info

421 Curie Blvd
University of Pennsylvania

Philadelphia, PA 19104
Phone: (215) 662-4740
Patient appointments: 800-789-PENN (7366)

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