Susan M Domchek

faculty photo
Basser Professor in Oncology
Director, Cancer Risk Evaluation Program, Abramson Cancer Center, University of Pennsylvania
Senior Fellow, Leonard Davis Institute of Health Economics, University of Pennsylvania
Executive Director, Basser Center for BRCA
Department: Medicine

Contact information
Division of Hematology Oncology
10th Floor, South Pavilion
Office #10-150
3400 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-615-3360
Fax: 215-615-3349
Education:
BA (Engineering Sciences)
Dartmouth College, 1990.
MD (Internal Medicine)
Harvard Medical School, 1995.
Permanent link
 

Description of Research Expertise

Breast cancer genetics
Breast cancer prevention and screening
Breast cancer immunotherapy clinical trials

Description of Itmat Expertise

Dr. Domchek is working on refining breast cancer risk assessment and better understanding genetic susceptibility to breast cancer.

Selected Publications

Cruz C, Llop-Guevara A1, Garber JE, Arun BK1, Pérez Fidalgo JA, Lluch A, Telli ML, Fernández C, Kahatt C, Galmarini CM1, Soto-Matos A1, Alfaro V, Pérez de la Haza A, Domchek SM, Antolin S, Vahdat L, Tung NM, Lopez R, Arribas J, Vivancos A, Baselga J, Serra V, Balmaña J, Isakoff SJ.: Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy. Journal of Clinical Oncology September 2018 Notes: doi: 10.1200/JCO.2018.78.6558. [Epub ahead of print]

MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN.: Earlier colorectal cancer screening may be necessary in patients with Li-Fraumeni Syndrome. Gastroenterology 5085(18), September 2018 Notes: Gastroenterology. 2018 Sep 19. pii: S0016-5085(18)35028-5. doi: 10.1053/j.gastro.2018.09.036. [Epub ahead of print]

Murciano-Goroff YR, McCarthy AM, Bristol MN, Groeneveld P, Domchek SM, Motanya UN, Armstrong K.: Uptake of BRCA 1/2 and oncotype DX testing by medical and surgical oncologists. Breast Cancer Research Treatment 171(1): 173-180, August 2018 Notes: Breast Cancer Res Treat. 2018 Aug;171(1):173-180. doi: 10.1007/s10549-018-4810-2. Epub 2018 May 8.

Francis PA1, Pagani O1, Fleming GF1, Walley BA1, Colleoni M1, Láng I1, Gómez HL1, Tondini C1, Ciruelos E1, Burstein HJ1, Bonnefoi HR1, Bellet M1, Martino S1, Geyer CE Jr1, Goetz MP1, Stearns V1, Pinotti G1, Puglisi F1, Spazzapan S1, Climent MA1, Pavesi L1, Ruhstaller T1, Davidson NE1, Coleman R1, Debled M1, Buchholz S1, Ingle JN1, Winer EP1, Maibach R1, Rabaglio-Poretti M1, Ruepp B1, Di Leo A1, Coates AS1, Gelber RD1, Goldhirsch A1, Regan MM1; SOFT and TEXT Investigators and the International Breast Cancer Study Group. Collaborators: Blacher L, Hiltbrunner A, Kammler R, Loibl S, Martinez J, Scott K, Shaw H, Torrisi R, Tryfonidis K, Viale G, Katkade V, Amauri Soares J, Boyle F, Jerusalem G, Stahl R, Aebi S, DiLeo A, Karlsson P, Kössler I, Fournarakou S, Roschitzki H, Roux S, Bonetti M, Feng Y, Giobbie-Hurder A, Gray K, Huang H, Luo W, Mahoney C, Price K, Zickl L, Blackwell M, Cesario A, Dickinson A, Donahue K, Greco M, Gonzalez P, Heckman-Scolese T, Hecker R, Hinkle R, Kalera M, Lupejkis K, Mora de Karausch A, Palermo V, Swick-Jemison J, Andrighetto S, Biasi O, Dell’Orto P, Russo L, Bernhard J, Ribi K, Piccart-Gebhart M, Abrams J, Mooney M, Zujewski JA, Hering M, Pandit S, Santos O, Frankel W, Rohrer D, Jewell S, McCart LM, Jewell R, Savoie J, Grant C, Cisar L, Katkade V, Francis P, Laycock I, Stewart J, Chirgwin J, van der Westhuizen A, Briscoe K, Redfern A, Koczwara B, Gauden S, Moylan E, Della-Fiorentina S, Nottage M, Boadle D, Snyder R, Sardelic F, Abdi E, Chipman M, Gombos A, Barbeaux A, Salmon JP, Neven P, Azim H, Parmar V, Gianni L, Simoncini E, Fabrizio A, Graiff C, Santoro A, Gomez H, Skof E, Vorobiof D, Linderholm B, Zaman K, Rabaglio M, Buser K, von Moos R, Rochlitz C, Rauch D, Gabriel N, Reißmüller K, Von Minckwitz G, Augustin D, Tomé O, Lorenz-Salehi F, Hahn A, Lüdders D, Bliss J, Gillman A, Atkins N, Earl H, McAdam K, Carey L, Partridge A, O’Regan RM, Gluck S, Pritchard KI, Whelan T, Gelmon K, Webster M, Wolmark N, Mamounas T, White J, Swain S, Hortobagyi GN, Gralow JR, Scott AF, Tonkin KS, Potvin KR, Tozer RG, Gapski JA, Prady C, Salim M, Sami A, Whitlock P, Roy JA, Hamm C, Freimann JH, Mortimer JE, Rugo HS, Ryan CJ, Parker BA, Elias AD, Tannenbaum S, Van Echo DC, Perez E, Wender DB, Walters TA, Merkel DE, Zaren HA, Rose CG, Kindler HL, Ansari RH, Nattam SR, Vogel SJ, McIntyre AP, Erban JK, Krag KJ, Hendricks CB, Rak Tkaczuk KH, Riseberg DA, Zakalik D, Flynn PJ, Schneider DJ, Naughton MJ, Stephenson WT, Marchello BT, Feldmann JE, Messino MJ, Hetzel DJ, Wos EJ, Sen K, Reed EC, Bonnem EM, Blom DH, Entmacher MS, Tiersten AD, Pellegrino CM, Levine EG, Schmotzer JA, Padula GDA, Mazurczak MA, Burdette-Radoux S, Rivkin SE, Gautam U, Hart RD, Abraham J, Kannourakis G, Underhill C, Gorddard N, Beith J, Beale P, Livshin E, White M, Hawson G, Hill J, Gill PG, Baron-Hay S, Vasey P, Lynch J, Kiberu A, Tsoi D, Epstein R, Wilson S, Gardner K, Campbell I, Villanova Biazús J, Corvalan A, Muller B, Torres R, Torres S, Letzkus J, Barajas O, Rojas H, Bravo ME, Cardemil B, Baeza R, Clerico M, Mattioli R, Visini M, Loden B, Bergh J, Malmström P, Nissborg A, Rageth C, Schoenenberger A, Popescu R, Caspar C, Senn HJ, Muñoz M, González Martín A, Catalán JG, Aramendia JM, Rifà J, López R, Llombart A, Virizuela JA, Lluch A, Martinez Jañez N, Melé M, de la Haba JR, Bohn U, Pérez Segura C, Jassem J, Neskovic-Konstantinovic Z, Dif N, Bogaerts J, Vandebroek A, Berliere M, Mitine C, Vuylsteke P, Dirix L, Moldovan C, de Lafontan B, Jouannaud C, Bachelot T, Desmoulins I, Brain E, Pierga JY, Kerbrat P, Tubiana-Mathieu N, Delecroix V, Fignon A, Saghatchian M, Fried G, Sonke S, Leeksma O, Kroep J, Moreira A, Dane F, Kleine-Tebbe A, Tessen HW, Thomssen C, Beckmann MW, Bauerfeind I, Schnappauf B, Stauder H, Grogan L, McCaffrey J, Keane M, O’Reilly S, Walshe J, Mazdai G, Makris A, Cole D, Churn M, Ines H, Todd R, Smith IE, Joji J, Perren T, Chittalia A, Ramachanara P, McCarthy JS, Kennecke H, Robidoux A, Kumar V, Dent SF, Vergidis D, Lopez PG, Grenier D, Ellard S, Pansegrau GK, Anderson JE, Diasio R, Ganz PA, Russel CA, Kroener JF, Ganey JT, Fehrenbacher L, Irwin DH, Javeed M, Anderson IC, Wapnir IL, Polikoff JA, Al-Jazayrly G, Pajon ER, Medgyesy D, Drucker BJ, Frank RC, Tepler I, Jagathambal K, Brandt DS, Isaacs C, Aggarwal A, Barr F, Biggs DD, Schwartz MA, Lilenbaum RC, Seay TE, Lebos HC, Keaton MR, Taylor MA, Bate WW, Holm C, Albain KS, Cobleigh MA, Nora RE, Wade JL, Kozloff MF, Rowland KM, Walling R, Miller KD, Dakhil SR, Mills GM, Wolff AC, Watkins SP, Hwang LC, Segal HM, Inhorn RC, Schott AF, Morris RT, Hurtubise MR, Dalton RJ, Goodwin JW, Lyss AP, Shea TC, Hopkins JO, Wall JG, Hertzel DJ, Dentchev T, Weckstein D, Kaufman PA, Catcher C, Michaelson RA, Toppmeyer DL, Klein P, Hudis CA, Leonard J, Odaimi M, Budman DR, Kalavar MR, Bloomfield CD, Budd GT, Silverman P, Gross HM, Schaefer PL, Tirumali NR, Brufsky AM, Gottlieb RJ, Domchek SM, Goldstein LJ, Luginbuhl WE, Reilly RE, Andrews WG, Hyzinski M, Sikov WM, Dizon DS, Schlabach LL, Mullins BA, Strauss JF, Green MC, Elledge RM, Unzeitig GW, Lanier KS, Stewart JA, Saphner TJ, Nambudiri GS, Tria Tirona MRB. : Tailoring Adjuvant Endocrine Therapy for Premenopausal Breast Cancer. The New England Journal of Medicine 379(2): 122-137, July 2018 Notes: N Engl J Med. 2018 Jul 12;379(2):122-137. doi: 10.1056/NEJMoa1803164. Epub 2018 Jun 4.

Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M. Schildkraut, Hae Kyung Im, Yian Ann Chen, Jennifer B Permuth, Brett M. Reid, Jamie K. Teer, Kirsten B. Moysich, Irene L. Andrulis, Hoda Anton-Culver, Banu K Arun, Elisa V. Bandera, Rosa B Barkardottir, Daniel R. Barnes, Javier Benitez, Line Bjørge, James Brenton, Ralf Butzow, Trinidad Caldes, Maria A. Caligo, Ian G. Campbell, Jenny Chang-Claude, Kathleen B.M Claes, Fergus J. Couch, Daniel W. Cramer, Mary B. Daly, Anna DeFazio, Joe Dennis, Orland Díez, Susan M. Domchek, Thilo Dork, Douglas F Easton, Diana M. Eccles, Peter A. Fasching, Renée T Fortner, George Fountzilas, Eitan Friedman, Patricia A. Ganz, Judy Garber, Graham G. Giles, Andrew K. Godwin, David E. Goldgar, Marc T. Goodman, Mark H. Greene, Jacek Gronwald, Ute Hamann, Florian Heitz, Michelle A.T. Hildebrandt, Claus K. Høgdall, Antoinette Hollestelle, Peter J Hulick, David G Huntsman, Evgeny N. Imyanitov, Claudine Isaacs, Anna Jakubowska, Paul James, Beth Y. Karlan, Linda E. Kelemen, Lambertus A Kiemeney, Susanne K. Kjaer, Ava Kwong, Nhu D Le, Goska Leslie, Fabienne Lesueur, Douglas A Levine, Amalia Mattiello, Taymaa May, Lesley McGuffog, Iain A. McNeish, Melissa A. Merritt, Francesmary Modugno, Marco Montagna, Susan L. Neuhausen, Heli Nevanlinna, Finn C Cilius Nielsen, Liene Nikitina-Zake, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sara H. Olson, Håkan Olsson, Ana Osorio, Sue K. Park, Michael T. Parsons, Petra H.M. Peeters, Tanja Pejovic, Paolo Peterlongo, Catherine M. Phelan, Miguel Angel Pujana, Susan J. Ramus, Gad Rennert, Harvey Risch, Gustavo C. Rodriguez, Cristina Rodríguez-Antona, Isabelle Romieu, Matti A. Rookus, Mary Anne Rossing, Iwona K. Rzepecka, Dale P. Sandler, Rita K Schmutzler, Veronica W. Setiawan, Priyanka Sharma, Weiva Sieh, Jacques Simard, Christian F. Singer, Honglin Song, Melissa C. Southey, Amanda B Spurdle, Rebecca Sutphen, Anthony J. Swerdlow, Manuel R. Teixeira, Soo H Teo, Mads Thomassen, Marc Tischkowitz, Amanda E Toland, Antonia Trichopoulou, Nadine Tung, Shelley S. Tworoger, Elizabeth J. van Rensburg, Adriaan Vanderstichele, Ana Vega, Digna Velez Edwards, Penelope M. Webb, Jeffrey N. Weitzel, Nicolas Wentzensen, Emily White, Alicja Wolk, Anna H. Wu, Drakoulis Yannoukakos, Kristin K Zorn, Simon A. Gayther, Antonis C. Antoniou, Andrew Berchuck, Ellen L. Goode, Georgia Chenevix-Trench, Thomas A. Sellers, Paul D. P. Pharoah, Wei Zheng, and Jirong Long: A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk. American Association for Cancer Research July 2018 Notes: DOI: 10.1158/0008-5472.CAN-18-09.

JL Chan, S Senapati, LNC Johnson, L DiGiovanni, C Voong, SF Butts, S Domchek: Risk factors for sexual dysfunction in BRCA mutation carriers after risk-reducing salpingo-oophorectomy. Menopause July 2018 Notes: doi: 10.1097/GME.0000000000001176. Epub ahead of print.

Kilbride MK, Domchek SM, Bradbury AR: Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests. JAMA Oncology July 2018 Notes: DOI: 10.1001/jamaoncol.2018.2439

Thiruchelvam PTR, Fisher CS, Leff DR, Domchek SM.: Pervasive genetic testing. The Lancet 391(10135): 2089-2091, May 2018 Notes: Lancet. 2018 May 26;391(10135):2089-2091.

Murciano-Goroff YR, McCarthy AM, Bristol MN, Domchek SM, Groeneveld PW, Motanya UN, Armstrong K.: Medical oncologists' willingness to participate in bundled payment programs. BMC Health Services Research 18(1): 391, May 2018 Notes: BMC Health Serv Res. 2018 May 31;18(1):391. doi: 10.1186/s12913-018-3202-y.

Shroff RT, Hendifar A, McWilliams RR, Geva R,Epelbaum E, Rolfe L, Goble S, Lin KK, Biankin AV, Giordano H, Vonderheide RH, Domchek SM: Rucaparib Monotherapy in Patients with Pancreatic Cancer and a Known Deleterious BRCA Mutation. JCO Precision Oncology May 2018.

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Last updated: 10/01/2018
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