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.
Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL: Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-cancer - Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet 98 (5): 801-17,2016.
Shannan B, Chen Q, Watters A, Perego M, Krepler C, Thombre R, Li L, Rajan G, Peterson S, Gimotty PA, Wilson M, Nathanson KL, Gangadhar TC, Schuchter LM, Weeraratna AT, Herlyn M, Vultur A: Enhancing the evaluation of PI3K inhibitors through 3D melanoma models. Pigment Cell Melanoma Res 29 (3): 317-328,2016.
Ovarian Cancer Association Consortium, Breast Cancer Association Consortium,
and Consortium of Modifiers of BRCA1 and BRCA2, Hollestelle A, van der Baan FH,
Berchuck A, Johnatty SE, Aben KK, Agnarsson BA, Aittomäki K, Alducci E, Andrulis
IL, Anton-Culver H, Antonenkova NN, Antoniou AC, Apicella C, Arndt V, Arnold N,
Arun BK, Arver B, Ashworth A; Australian Ovarian Cancer Study Group, Baglietto L,
Balleine R, Bandera EV, Barrowdale D, Bean YT, Beckmann L, Beckmann MW, Benitez
J, Berger A, Berger R, Be: No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer. Gynecol Oncol 141 (2): 386-401,2016.
Scelo G, Hofmann JN, Banks RE, Bigot P, Bhatt RS, Cancel-Tassin G, Chew SK, Creighton CJ, Cussenot O, Davis IJ, Escudier B, Frayling TM, Häggström C, Hildebrandt MA, Holcatova I, Johansson M, Linehan WM, McDermott DF, Nathanson KL, Ogawa S, Perlman EJ, Purdue MP, Stattin P, Swanton C, Vasudev NS, Wu X, Znaor A, Brennan P, Chanock SJ: International cancer seminars - A focus on kidney cancer. Ann Oncol : 2016.
Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J, Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D, Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Marjaneh MM, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J, Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K, Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, F: Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet 48 (4): 374-386,2016.
Krepler C, Xiao M, Spoesser K, Brafford PA, Shannan B, Beqiri M, Liu Q, Xu W, Garman B, Nathanson KL, Xu X, Karakousis GC, Mills GB, Lu Y, Ahmed TA, Poulikakos P, Caponigro G, Boehm M, Peters M, Schuchter LM, Weeraratna AT, Herlyn M: Personalized pre-clinical trials in BRAF inhibitor resistant patient derived xenograft models identify second line combination therapies. Clin Cancer Res 22 (7): 1592-1602,2016.
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 : 2016.
Sargen MR, Merrill SL, Chu EY, Nathanson KL: CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic nevi, and internal malignancies: A case series and review of the literature. Br J Dermatol : 2016.
Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, : Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res 18 (1): 15,2016.
Bradbury AR, Patrick-Miller LJ, Egleston BL, DiGiovanni L, Brower J, Harris D, Stevens EM, Maxwell KN, Kulkarni A, Chavez T, Brandt A, Long JM, Powers J, Stopfer JE, Nathanson KL, Domchek SM: Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing. Genet Med 18 (1): 25-33,2016.