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, 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): 4071-8,2016.
Maxwell KN, Domchek SM, Nathanson KL, Robson ME: Population frequency of germline BRCA1/2 mutations J Clin Oncol 34 (34): 4183-5,2016.
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.
Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K: A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer Cancer Discov 6 (11): 1267-1275,2016.
DeBrosse C, Nanga RP, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE: Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. JCI Insight 1 (18): e88207,2016.
Shu CA, Pike MC, Jotwani AR, Friebel TM, Soslow RA, Levine DA, Nathanson KL, Konner JA, Arnold AG, Bogomolniy F, Dao F, Olvera N, Bancroft EK, Goldfrank DJ, Stadler ZK, Robson ME, Brown CL, Leitao MM Jr, Abu-Rustum NR, Aghajanian CA, Blum JL, Neuhausen SL, Garber JE, Daly MB, Isaacs C, Eeles RA, Ganz PA, Barakat RR, Offit K, Domchek SM, Rebbeck TR, Kauff ND: Uterine cancer after risk-reducing salpingo-oophorectomy without hysterectomy in women with BRCA mutation JAMA Oncol 2 (11): 1434-40,2016.
Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, de la Hoya M, Diez O, Domchek SM, Nathanson KL, Durda K, Ellis S; EMBRACE., Evans DG, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Glendon G, Godwin AK, Greene
MH, Gronwald J, Hahnen E, Hallberg E, Hamann U, Hansen TV; HEBON., Imyanitov EN,
Isaacs C, Jakubowska A, Janavi: Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. Breast Cancer Res 18 (1): 112,2016.
Qian F, Feng Y, Zheng Y, Ogundiran TO, Ojengbede O, Zheng W, Blot W, Ambrosone CB, John EM, Bernstein L, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Nathanson KL, Hennis A, Nemesure B, Ambs S, Kolonel LN, Olopade OI, Haiman CA, Huo D: Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry. Hum Genet 135 (19): 1145-1159,2016.
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 175 (4): 785-789,2016.
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 : 2016.