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

Katona BW, Yurgelun MB, Garber JE, Offit K, Domchek SM, Robson ME, Stadler ZK. 2018 Mar 1. : A Counseling Framework for Moderate-Penetrance Colorectal Cancer susceptibility genes. Genet Med. March 2018 Notes: doi: 10.1038/gim.2018.12. [Epub ahead of print] No abstract available.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, Peixoto A, Peruga N, Peterlongo P, Pohl E, Pradhan N, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. February 2018 Notes: doi: 10.1002/humu.23406. [Epub ahead of print]

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE, Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators, Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J; HEBON, Henderson A, Hentschel J, Hogervorst FBL, Honisch E, Imyanitov EN, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Vijai J, Kaczmarek K, Karlan BY, Kast K, Investigators K, Kim SW, Konstantopoulou I, Korach J, Laitman Y, Lasa A, Lasset C, Lázaro C, Lee A, Lee MH, Lester J, Lesueur F, Liljegren A, Lindor NM, Longy M, Loud JT, Lu KH, Lubinski J, Machackova E, Manoukian S, Mari V, Martínez-Bouzas C, Matrai Z, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Mickys U, Miller A, Montagna M, Moysich KB, Mulligan AM, Musinsky J, Neuhausen SL, Nevanlinna H, Ngeow J, Nguyen HP, Niederacher D, Nielsen HR, Nielsen FC, Nussbaum RL, Offit K, Öfverholm A, Ong KR, Osorio A, Papi L, Papp J, Pasini B, Pedersen IS, MSc AP, MSc NP, Peterlongo P, Pohl E, Ba NP, Prajzendanc K, Prieur F, Pujol P, Radice P, Ramus SJ, Rantala J, Rashid MU, Rhiem K, Robson M, Rodriguez GC, Rogers MT, Rudaitis V, Schmidt AY, Schmutzler RK, Senter L, Shah PD, Sharma P, Side LE, Simard J, Singer CF, Skytte AB, Slavin TP, Snape K, Sobol H, Southey M, Steele L, Steinemann D, Sukiennicki G, Sutter C, Szabo CI, Tan YY, Teixeira MR, Terry MB, Teulé A, Thomas A, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Topka S, Trainer AH, Tung N, van Asperen CJ, van der Hout AH, van der Kolk LE, van der Luijt RB, Van Heetvelde M, Varesco L, Varon-Mateeva R, Vega A, Villarreal-Garza C, von Wachenfeldt A, Walker L, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Yoon SY, Zanzottera C, Zidan J, Zorn KK, Hutten Selkirk CG, Hulick PJ, Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL.: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat. February 2018 Notes: doi: 10.1002/humu.23406. [Epub ahead of print]

Bradbury AR, Patrick-Miller LJ, Egleston BL, Hall MJ, Domchek SM, Daly MB, Ganschow P, Grana G, Olopade OI, Fetzer D, Brandt A, Chambers R, Clark DF, Forman A, Gaber R, Gulden C, Horte J, Long JM, Lucas T, Madaan S, Mattie K, McKenna D, Montgomery S, Nielsen S, Powers J, Rainey K, Rybak C, Savage M, Seelaus C, Stoll J, Stopfer JE, Yao XS. : Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results. J Natl Cancer Inst. February 2018 Notes: doi: 10.1093/jnci/djy015. [Epub ahead of print]

Han HS, Diéras V, Robson M, Palácová M, Marcom PK, Jager A, Bondarenko I, Citrin D, Campone M, Telli ML, Domchek SM, Friedlander M, Kaufman B, Garber JE, Shparyk Y, Chmielowska E, Jakobsen EH, Kaklamani V, Gradishar W, Ratajczak CK, Nickner C, Qin Q, Qian J, Shepherd SP, Isakoff SJ, Puhalla S.: Veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in patients with BRCA1/2 locally recurrent/metastatic breast cancer: randomized phase II study. Ann Oncol 29(1), Jan 2018 Notes: 2018 Jan 1;29(1):154-161. doi: 10.1093/annonc/mdx505.

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 2018.

Kwong A, Ho JCW, Shin VY, Kurian AW, Tai E, Esserman LJ, Weitzel JN, Lin PH, Field M, Domchek SM, Lo J, Ngan HYS, Ma ESK, Chan TL, Ford JM.: Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels. Oncotarget 9(8), December 2017 Notes: Oncotarget. 2017 Dec 20;9(8):7832-7843. doi: 10.18632/oncotarget.23471. eCollection 2018 Jan 30.

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Milne RL1,2, Kuchenbaecker KB3,4, Michailidou K3,5, Beesley J6, Kar S7, Lindström S8,9, Hui S10, Lemaçon A11, Soucy P11, Dennis J3, Jiang X9, Rostamianfar A10, Finucane H9,12, Bolla MK3, McGuffog L3, Wang Q3, Aalfs CM13; ABCTB Investigators, Adams M14, Adlard J15, Agata S16, Ahmed S7, Ahsan H17, Aittomäki K18, Al-Ejeh F19, Allen J3, Ambrosone CB20, Amos CI21, Andrulis IL22,23, Anton-Culver H24, Antonenkova NN25, Arndt V26, Arnold N27, Aronson KJ28, Auber B29, Auer PL30,31, Ausems MGEM32, Azzollini J33, Bacot F34, Balmaña J35, Barile M36, Barjhoux L37, Barkardottir RB38,39, Barrdahl M40, Barnes D3, Barrowdale D3, Baynes C7, Beckmann MW41, Benitez J42,43,44, Bermisheva M45, Bernstein L46, Bignon YJ47, Blazer KR48, Blok MJ49, Blomqvist C50, Blot W51,52, Bobolis K53, Boeckx B54,55, Bogdanova NV25,56,57, Bojesen A58, Bojesen SE59,60,61, Bonanni B36, Børresen-Dale AL62, Bozsik A63, Bradbury AR64, Brand JS65, Brauch H66,67,68, Brenner H26,68,69, Bressac-de Paillerets B70, Brewer C71, Brinton L72, Broberg P73, Brooks-Wilson A74,75, Brunet J76, Brüning T77, Burwinkel B78,79, Buys SS80, Byun J21, Cai Q51, Caldés T81, Caligo MA82, Campbell I83,84, Canzian F85, Caron O70, Carracedo A86,87, Carter BD88, Castelao JE89, Castera L90, Caux-Moncoutier V91, Chan SB, Chang-Claude J40,92, Chanock SJ72, Chen X6, Cheng TD93, Chiquette J94, Christiansen H56, Claes KBM95, Clarke CL96, Conner T97, Conroy DM7, Cook J98, Cordina-Duverger E99, Cornelissen S100, Coupier I101, Cox A102, Cox DG103,104, Cross SS105, Cuk K26, Cunningham JM106, Czene K65, Daly MB107, Damiola F37, Darabi H65, Davidson R108, De Leeneer K95, Devilee P109,110, Dicks E7, Diez O111, Ding YC46, Ditsch N112, Doheny KF14, Domchek SM64, Dorfling CM113, Dörk T57, Dos-Santos-Silva I114, Dubois S11, Dugué PA1,2, Dumont M11, Dunning AM7, Durcan L115,116, Dwek M117, Dworniczak B118, Eccles D116, Eeles R119, Ehrencrona H120, Eilber U40, Ejlertsen B121, Ekici AB122, Eliassen AH123,124; EMBRACE, Engel C125,126, Eriksson M65, Fachal L7, Faivre L127,128, Fasching PA41,129, Faust U130, Figueroa J72,131, Flesch-Janys D132,133, Fletcher O134, Flyger H135, Foulkes WD136, Friedman E137,138, Fritschi L139, Frost D3, Gabrielson M65, Gaddam P140, Gammon MD141, Ganz PA142, Gapstur SM88, Garber J143, Garcia-Barberan V81, García-Sáenz JA81, Gaudet MM88, Gauthier-Villars M91, Gehrig A144; GEMO Study Collaborators, Georgoulias V145, Gerdes AM146, Giles GG1,2, Glendon G22, Godwin AK147, Goldberg MS148,149, Goldgar DE150, González-Neira A42, Goodfellow P151, Greene MH152, Alnæs GIG62, Grip M153, Gronwald J154, Grundy A155, Gschwantler-Kaulich D156, Guénel P99, Guo Q157, Haeberle L41, Hahnen E158,159,160, Haiman CA161, Håkansson N162, Hallberg E163, Hamann U164, Hamel N34, Hankinson S165, Hansen TVO166, Harrington P7, Hart SN163, Hartikainen JM167,168,169, Healey CS7; HEBON, Hein A41, Helbig S57, Henderson A170, Heyworth J171, Hicks B172, Hillemanns P57, Hodgson S173, Hogervorst FB174, Hollestelle A175, Hooning MJ175, Hoover B72, Hopper JL2, Hu C106, Huang G164, Hulick PJ176,177, Humphreys K65, Hunter DJ9,124, Imyanitov EN178, Isaacs C179, Iwasaki M180, Izatt L181, Jakubowska A154, James P84,182, Janavicius R183, Janni W184, Jensen UB185, John EM186,187, Johnson N134, Jones K172, Jones M188, Jukkola-Vuorinen A189, Kaaks R40, Kabisch M164, Kaczmarek K154, Kang D190,191,192, Kast K193; kConFab/AOCS Investigators, Keeman R100, Kerin MJ194, Kets CM195, Keupers M196, Khan S197, Khusnutdinova E45,198, Kiiski JI197, Kim SW156, Knight JA199,200, Konstantopoulou I201, Kosma VM167,168,169, Kristensen VN62,202,203, Kruse TA204, Kwong A205,206,207, Lænkholm AV208, Laitman Y137, Lalloo F209, Lambrechts D54,55, Landsman K210, Lasset C211, Lazaro C212, Le Marchand L213, Lecarpentier J3, Lee A3, Lee E161, Lee JW214, Lee MH215, Lejbkowicz F210, Lesueur F216,217,218,219, Li J65, Lilyquist J220, Lincoln A221, Lindblom A222, Lissowska J223, Lo WY66,67, Loibl S224, Long J51, Loud JT152, Lubinski J154, Luccarini C7, Lush M3, MacInnis RJ1,2, Maishman T115,116, Makalic E2, Kostovska IM225, Malone KE226, Manoukian S33, Manson JE227, Margolin S228, Martens JWM175, Martinez ME229,230, Matsuo K231,232, Mavroudis D145, Mazoyer S233, McLean C234, Meijers-Heijboer H13,235, Menéndez P236, Meyer J106, Miao H237, Miller A238, Miller N194, Mitchell G84,182, Montagna M16, Muir K239,240, Mulligan AM241,242, Mulot C243, Nadesan S53, Nathanson KL64; NBSC Collaborators, Neuhausen SL46, Nevanlinna H197, Nevelsteen I196, Niederacher D244, Nielsen SF59,60, Nordestgaard BG59,60,61, Norman A163, Nussbaum RL245, Olah E63, Olopade OI246, Olson JE163, Olswold C163, Ong KR247, Oosterwijk JC248, Orr N134, Osorio A43,44, Pankratz VS249, Papi L250, Park-Simon TW57, Paulsson-Karlsson Y251, Lloyd R252, Pedersen IS253, Peissel B33, Peixoto A254, Perez JIA255, Peterlongo P256, Peto J114, Pfeiler G157, Phelan CM257, Pinchev M210, Plaseska-Karanfilska D225, Poppe B95, Porteous ME258, Prentice R30, Presneau N117, Prokofieva D198, Pugh E14, Pujana MA259, Pylkäs K260,261, Rack B112,184, Radice P262, Rahman N263, Rantala J264, Rappaport-Fuerhauser C156, Rennert G210,265, Rennert HS210,265, Rhenius V7, Rhiem K158,159,160, Richardson A266, Rodriguez GC267, Romero A81,268, Romm J14, Rookus MA269, Rudolph A40, Ruediger T270, Saloustros E271, Sanders J272, Sandler DP273, Sangrajrang S274, Sawyer EJ275, Schmidt DF2, Schoemaker MJ188, Schumacher F276, Schürmann P57, Schwentner L184, Scott C163, Scott RJ277,278, Seal S263, Senter L279, Seynaeve C175, Shah M7, Sharma P280, Shen CY281,282, Sheng X161, Shimelis H106, Shrubsole MJ51, Shu XO51, Side LE283, Singer CF156, Sohn C284, Southey MC285, Spinelli JJ286,287, Spurdle AB6, Stegmaier C288, Stoppa-Lyonnet D91, Sukiennicki G154, Surowy H78,79, Sutter C289, Swerdlow A188,290, Szabo CI291, Tamimi RM9,123,124, Tan YY156, Taylor JA273,292, Tejada MI293, Tengström M167,294,295, Teo SH296,297, Terry MB298, Tessier DC34, Teulé A299, Thöne K133, Thull DL300, Tibiletti MG301, Tihomirova L302, Tischkowitz M136,303, Toland AE304, Tollenaar RAEM305, Tomlinson I306, Tong L17, Torres D164,307, Tranchant M11, Truong T99, Tucker K308, Tung N309, Tyrer J7, Ulmer HU310, Vachon C163, van Asperen CJ311, Van Den Berg D161, van den Ouweland AMW312, van Rensburg EJ113, Varesco L313, Varon-Mateeva R314, Vega A315,316, Viel A317, Vijai J221, Vincent D34, Vollenweider J106, Walker L318, Wang Z72,319, Wang-Gohrke S184, Wappenschmidt B158,159,160, Weinberg CR320, Weitzel JN48, Wendt C228, Wesseling J100,272, Whittemore AS187,321, Wijnen JT110,312, Willett W124,322, Winqvist R260,261, Wolk A162, Wu AH161, Xia L161, Yang XR72, Yannoukakos D201, Zaffaroni D33, Zheng W51, Zhu B172, Ziogas A24, Ziv E323, Zorn KK301, Gago-Dominguez M86,229, Mannermaa A167,168,169, Olsson H73, Teixeira MR254,324, Stone J252,325, Offit K326,327, Ottini L328, Park SK190,192, Thomassen M204, Hall P65,329, Meindl A330, Schmutzler RK158,160, Droit A11, Bader Bader GD, Pharoah PDP, Couch FJ, Easton DF, Kraft P, Chenevix-Trench G, García-Closas M, Schmidt MK, Antoniou AC, Simard J. : Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 49(12), December 2017 Notes: Dec;49(12):1767-1778. doi: 10.1038/ng.3785. Epub 2017 Oct 23.

Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ. : Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer November 2017 Notes: doi: 10.1038/s41523-017-0046-2. eCollection 2017. Free PMC Article.

Hughes KS, Ambinder EP, Hess GP, Yu PP, Bernstam EV, Routbort MJ, Clemenceau JR, Hamm JT, Febbo PG, Domchek SM, Chen JL, Warner JL; OPO Workshop Members. : Identifying Health Information Technology Needs of Oncologists to Facilitate the Adoption of Genomic Medicine: Recommendations From the 2016 American Society of Clinical Oncology Omics and Precision Oncology Workshop. J Clin Oncol 35(27), September 2017 Notes: 35(27):3153-3159. doi: 10.1200/JCO.2017.74.1744. Epub 2017 Jul 24.

back to top
Last updated: 03/24/2018
The Trustees of the University of Pennsylvania