SOM Home / Faculty Search / Katherine L. Nathanson

Katherine L. Nathanson, MD

Associate Professor of Medicine

Department: Medicine

Graduate Group Affiliations

Cell and Molecular Biology

Contact information

351 BRB II/III
421 Curie Blvd
University of Pennsylvania
Philadelphia, PA 19104

Office: 215-662-4740

Email:
knathans@exchange.upenn.edu

Education:
B.A. (Biology)
Haverford College, Haverford, PA, 1987.
M.D.
University of Pennsylvania, Philadelphia, PA, 1993.

Permanent link

School of Medicine > Faculty > Search

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.

Selected Publications

Stevens KN, Wang X, Fredericksen Z, Pankratz VS, Greene MH, Andrulis IL, Thomassen M, Caligo M; Swedish Breast Cancer Study, Sweden (SWE-BRCA), Nathanson KL, Jakubowska A, Osorio A, Hamann U, Godwin AK, Stoppa-Lyonnet D, Southey M, Buys SS, Singer CF, Hansen TV, Arason A, Offit K, Piedmonte M, Montagna M, Imyanitov E, Tihomirova L, Sucheston L, Beattie M; HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON); German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), Neuhausen SL; CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT Team), Szabo CI; kConFab, Simard J, Spurdle AB, Healey S, Chen X, Rebbeck TR, Easton DF, Chenevix-Trench G, Antoniou AC, Couch FJ. : Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers. Breast Cancer Res Treat. 136(1): 295-302, November 2012.

Domchek SM, Jhaveri K, Patil S, Stopfer JE, Hudis C, Powers J, Stadler Z, Goldstein L, Kauff N, Khasraw M, Offit K, Nathanson KL, Robson M.: Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer. Cancer. 10: 1002, November 2012.

Lang SS, Zager EL, Coyne TM, Nangunoori R, Kneeland JB, Nathanson KL.: Hybrid peripheral nerve sheath tumor. J Neurosurg. 117(5): 897-901, November 2012 Notes: [Epub ahead of print]

Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, Schmutzler RK, Domchek SM, Nathanson KL, Radice P, Singer CF, Tonin PN, Lindor NM, Goldgar DE, Couch FJ.: A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity. Cancer Res. October 2012 Notes: Epub ahead of print.

Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S, Kaufman B; for SWE-BRCA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T, Osorio A, Cajal TR, Stavropoulou AV, Benítez J, Hamann U; for HEBON, Rookus M, Aalfs CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gómez García EB, Hoogerbrugge N, Jager A, van der Luijt RB; for EMBRACE, Easton DF, Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin AK, Pathak H; for GEMO Study Collaborators, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Barjhoux L, Léoné M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A, Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L, Cohn D, Demars LR, Disilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S, Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L, Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J; for KConFab Investigators, Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J, Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S, Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H; for OCGN, Gerdes AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G, Antoniou AC, Neuhausen SL; on behalf of Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).: A non-synonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers. Cancer Epidemiology Biomarkers Prev. 8: 1362-1370, August 2012.

Chen F, Chen GK, Stram DO, Millikan RC, Ambrosone CB, John EM, Bernstein L, Zheng W, Palmer JR, Hu JJ, Rebbeck TR, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Ruiz-Narvaez EA, Deming SL, Rodriguez-Gil JL, Demichele A, Chanock SJ, Blot W, Signorello L, Cai Q, Li G, Long J, Huo D, Zheng Y, Cox NJ, Olopade OI, Ogundiran TO, Adebamowo C, Nathanson KL, Domchek SM, Simon MS, Hennis A, Nemesure B, Wu SY, Leske MC, Ambs S, Hutter CM, Young A, Kooperberg C, Peters U, Rhie SK, Wan P, Sheng X, Pooler LC, Van Den Berg DJ, Le Marchand L, Kolonel LN, Henderson BE, Haiman CA.: A genome-wide association study of breast cancer in women of African ancestry. Hum Genet. August 2012 Notes: [Epub ahead of print]

Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD; GENICA Network, Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N, Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI, Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA, Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP, Benítez J, Severi G, Baglietto L, Giles GG; kConFab; AOCS Study Group, Spurdle AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J, Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK, Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM; SWE-BRCA, Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A; HEBON, Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D, Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD, Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA.: Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2. PLoS One 6: e35706, July 2012.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Paligo M, Aretini P; SWE-BRCA, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J.: Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer 106(12): 2016-24, Jun 2012.

Fishbein L, Bonner L, Torigian DA, Nathanson KL, Cohen DL, Pryma D, Cengel KA.: External beam radiation therapy (EBRT) for patients with malignant pheochromocytoma and non-head and -neck paraganglioma: combination with 131I-MIBG. Horm Metab Res 44(5): 405-10, May 2012.

Laitman Y, Kuchenbaecker KB, Rantala J, Hogervorst F, Peock S, Godwin AK, Arason A, Kirchhoff T, Offit K, Isaacs C, Schmutzler RK, Wappenschmidt B, Nevanlinna H, Chen X, Chenevix-Trench G, Healey S, Couch F, Peterlongo P, Radice P, Nathanson KL, Caligo MA, Neuhausen SL, Ganz P, Sinilnikova OM, McGuffog L, Easton DF, Antoniou AC, Wolf I, Friedman E: The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 132(3): 1119-26, Apr 2012.