Susan M Domchek, MD

faculty photo
Basser Professor in Oncology
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
 
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Description of Research Expertise

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

Description of Clinical Expertise

Breast cancer prevention, screening and treatment
Breast cancer genetics

Selected Publications

Kraya AA1, Maxwell KN2, Wubbenhorst B1, Wenz BM1, Pluta J3, Rech AJ4, Dorfman LM1, Lunceford N5, Barrett A1, Mitra N1, Morrissette JJ6, Feldman M7, Nayak A8, Domchek SM9, Vonderheide RH10, Nathanson KL11.: Genomic signatures predict the immunogenicity of BRCA-deficient breast cancer. Clinical Cancer Research: An official Journal of the American Association for Cancer Research March 2019 Notes: clincanres.0468.2018. doi: 10.1158/1078-0432.CCR-18-0468. [Epub ahead of print]

outcomes in the multicenter Communication Of GENetic Test Results by Telephone study. Beri N1,2, Patrick-Miller LJ3, Egleston BL4, Hall MJ5, Domchek SM1,2, Daly MB5, Ganschow P6, Grana G7, Olopade OI3, Fetzer D1,2, Brandt A1,2, Chambers R8, Clark DF7, Forman A5, Gaber R6, Gulden C8, Horte J7, Long J1,2, Lucas T6, Madaan S8, Mattie K7, McKenna D1,2, Montgomery S5, Nielsen S8, Powers J1,2, Rainey K5, Rybak C5, Savage M5, Seelaus C6, Stoll J8, Stopfer JE1,2, Yao XS7, Bradbury AR1,9,2.: Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study. Clin Genet 95(2): 293-301, February 2019.

Katona BW1, Stadler ZK2,3, Robson ME2,3, Domchek SM1: BRCA1 and BRCA2 Gene Mutations and Colorectal Cancer Risk: Systematic Review and Meta-analysis. Author information PMID: 30715414 DOI: 10.1093/jnci/djz012 Journal of National Cancer Institute February 2019 Notes: Doi: 10.1093/jnci/djz012. [Epub ahead of print]

MacFarland SP1, Zelley K1, Long JM2, McKenna D2, Mamula P3, Domchek SM2, Nathanson KL4, Brodeur GM1, Rustgi AK5, Katona BW6, Maxwell KN3.: Earlier Colorectal Cancer Screening May Be Necessary In Patients With Li-Fraumeni Syndrome. Gatroenterology 156(1): 273-274, Jan 2019 Notes: Epub 2018 Sept 21.

Schwartz LA, Henry-Moss D, Egleston B, Patrick-Miller L, Markman E, Daly M, Tuchman L, Moore C, Rauch PK, Karpink K, Sands CB, Domchek SM, Bradbury AR.: Preventative Health and Risk Behaviors Among Adolescent Girls With and Without Family Histories of Breast Cancer. J Adolesc Health 64(1): 116-123, Jan 2019 Notes: Epub 2018 Oct 6.

Clark AS1, McAndrew NP2, Troxel A3, Feldman M4, Lal P5, Rosen M6, Burrell J7, Redlinger C8, Gallgher M9, Bradbury AR10, Domchek SM11, Fox KR12, O'Dwyer PJ13, DeMichele AM14.: Combination Paclitaxel and Palbociclib: Results of a Phase I Trial in Advanced Breast Cancer. Clin Cancer Res January 2019 Notes: doi: 10.1158/1078-0432.CCR-18-0790. [Epub ahead of print]

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. Cline MS1, Liao RG2, Parsons MT3, Paten B4, Alquaddoomi F5,6,7, Antoniou A8, Baxter S4, Brody L9, Cook-Deegan R10, Coffin A1, Couch FJ11, Craft B1, Currie R1, Dlott CC1, Dolman L12, den Dunnen JT13, Dyke SOM14, Domchek SM15, Easton D8, Fischmann Z1, Foulkes WD16, Garber J17, Goldgar D18, Goldman MJ1, Goodhand P12, Harrison S19, Haussler D1,4, Kato K20, Knoppers B21, Markello C1,4,22, Nussbaum R23, Offit K24, Plon SE25,26, Rashbass J27, Rehm HL28,29, Robson M24, Rubinstein WS30, Stoppa-Lyonnet D31, Tavtigian S19,32, Thorogood A12,33, Zhang C34, Zimmermann M5,6; BRCA Challenge Authors, Burn J35, Chanock S36, Rätsch G5,6,37,38, Spurdle AB39.: BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLOS Genetics 14(12), December 2018 Notes: PLoS Genet. 2018 Dec 26;14(12):e1007752. doi: 10.1371/journal.pgen.1007752. eCollection 2018 Dec.

Domchek SM.: Risk-Reducing Mastectomy in BRCA1 and BRCA2 Mutation Carriers: A Complex Discussion. The Journal of the American Medical Association(JAMA) December 2018 Notes: doi: 10.1001/jama.2018.18942. [Epub ahead of print]

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 36(31): 3134-3143, November 2018.

Mendelian Randomization Study. Qian F1, Wang S2,3, Mitchell J4, McGuffog L5, Barrowdale D5, Leslie G5, Oosterwijk JC6, Chung WK7, Evans DG8, Engel C9,10, Kast K11,12, Aalfs CM13,14,15, Adank MA16, Adlard J17,12, Agnarsson BA18,19, Aittomäki K20, Alducci E21,12, Andrulis IL22,23, Arun BK24, Ausems MGEM25, Azzollini J26, Barouk-Simonet E27,28, Barwell J29,30, Belotti M31, Benitez J32, Berger A33, Borg A34,35, Bradbury AR36, Brunet J31,37,38, Buys SS39, Caldes T40, Caligo MA41, Campbell I42,43, Caputo SM29,31, Chiquette J44, Claes KBM45, Margriet Collée J46, Couch FJ47, Coupier I48, Daly MB49, Davidson R50, Diez O51, Domchek SM36, Donaldson A52, Dorfling CM53,54, Eeles R55, Feliubadaló L56, Foretova L57,58, Fowler J59, Friedman E60,61, Frost D5, Ganz PA32, Garber J34, Garcia-Barberan V40, Glendon G22, Godwin AK28, Gómez Garcia EB12, Gronwald J12, Hahnen E62, Hamann U, Henderson A35, Hendricks CB54, Hopper JL56, Hulick PJ14,15, Imyanitov EN51, Isaacs C63, Izatt L64, Izquierdo Á30, Jakubowska A12, Kaczmarek K12, Kang E65, Karlan BY66, Kets CM67, Kim SW68, Kim Z69, Kwong A70,71,72, Laitman Y60, Lasset C73, Hyuk Lee M74, Won Lee J75, Lee J12,66,74, Lester J12, Lesueur F76,77,78,79, Loud JT80, Lubinski J12, Mebirouk N76,77,78,79, Meijers-Heijboer HEJ81, Meindl A82,83, Miller A82, Montagna M84, Mooij TM85, Morrison PJ86, Mouret-Fourme E31, Nathanson KL, Neuhausen SL87, Nevanlinna H88, Niederacher D89, Nielsen FC90, Nussbaum RL91, Offit K92,93, Olah E94, Ong KR95, Ottini L96, Park SK97, Peterlongo P98, Pfeiler G99, Phelan CM100, Poppe B45, Pradhan N92, Radice P101, Ramus SJ102,103, Rantala J104, Robson M93, Rodriguez GC105, Schmutzler RK62, Hutten Selkirk CG14, Shah PD36, Simard J106, Singer CF107, Sokolowska J108, Stoppa-Lyonnet D109,110, Sutter C111, Yen Tan Y38, Teixeira RM112,113, Teo SH114,115, Terry MB116, Thomassen M117, Tischkowitz M118,119, Toland AE120, Tucker KM121,122, Tung N123, van Asperen CJ124, van Engelen K13, van Rensburg EJ53, Wang-Gohrke S125, Wappenschmidt B62, Weitzel JN126, Yannoukakos D127; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH80, Rookus MA85, Easton DF5,128, Chenevix-Trench G129, Antoniou AC5, Goldgar DE130, Olopade OI1, Rebbeck TR131,132, Huo D1,133.: Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. October 2018 Notes: doi: 10.1093/jnci/djy132. [Epub ahead of print]

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Last updated: 04/12/2019
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