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.
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.
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 22 (2): 374-382,2016.
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 21 (23): 5215-5221,2015.