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.
Balmaña J, Nathanson K, Offit K, Robson M, Domchek S: Reply to R. Nussbaum et al and J. Dolinsky et al. J Clin Oncol : 2017.
Walker LC, Marquart L, Pearson JF, Wiggins GA, O'Mara TA, Parsons MT; BCFR., Barrowdale D, McGuffog L, Dennis J, Benitez J, Slavin TP, Radice P, Frost D; EMBRACE., Godwin AK, Meindl A, Schmutzler RK; GEMO Study Collaborators., Isaacs C, Peshkin BN, Caldes T, Hogervorst FB; HEBON., Lazaro C, Jakubowska A, Montagna M; KConFab Investigators., Chen X, Offit K, Hulick PJ, Andrulis IL, Lindblom A, Nussbaum RL, Nathanson KL, Chenevix-Trench G, Antoniou AC, Couch FJ, Spurdle AB: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Eur J Hum Genet 25 (4): 432-438,2017.
Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson A, Lichtenberg TM, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, Amelio AL, Lakowski J, Rathmell WK, Gimenez-Roqueplo A-P, Giordano TJ, Asa SL, Tischler AS, The Cancer Genome Atlas Research Network, Pacak K, Nathanson KL*, Wilkerson MD*: Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell 31 (2): 181-193,2017.
Maxwell KN, Domchek SM, Nathanson KL, Robson ME: Population frequency of germline BRCA1/2 mutations. J Clin Oncol 34 (34): 4183-4185,2016.
Narayan V, Gunnarsson O, Hwang WT, Squillante CM, Nathanson KL, Stadtmauer EA, Vaughn DJ.
: Risk-Stratified Initial Salvage Therapy for Relapsed or Refractory Metastatic Germ Cell Tumors. Clin Genitourin Cancer. 14 (6): 524-529,2016.
George E, Kim H, Krepler C, Wenz B, Makvandi M, Tanyi JL, Brown E, Zhang R, Brafford P, Jean S, Mach RH, Lu Y, Mills GB, Herlyn M, Morgan M, Zhang X, Soslow R, Drapkin R, Johnson N, Zheng Y, Cotsarelis G, Nathanson KL, Simpkins F: A patient-derived-xenograft platform to study BRCA-deficient ovarian cancers. JCI Insight 2 (1): e89760,2017.
Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE., Engel C, Gare: Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. Breast Cancer Res Treat 161 (1): 117-134,2017.
Krepler C, Xiao M, Samanta M, Vultur A, Chen HY, Brafford P, Reyes-Uribe PI, Halloran M, Chen T, He X, Hristova D, Liu Q, Samatar AA, Davies MA, Nathanson KL, Fukunaga-Kalabis M, Herlyn M, Villanueva J: Targeting Notch enhances the efficacy of ERK inhibitors in BRAF-V600E melanoma Oncotarget 7 (44): 71211-71222,2016.
Narayan V, Gunnarsson O, Hwang WT, Squillante CM, Nathanson KL, Stadtmauer EA, Vaughn DJ: Risk-stratified initial salvage therapy for relapsed or refractory metastatic germ cell tumors Clin Genitourin Cancer 14 (6): 524-529,2016.
Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM: Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the Prospective Registry of Multiplex Testing. J Clin Oncol 34 (34): 4071-4078,2016.