Research Interests:
Dr. Domchek is a medical oncologist specializing in breast
cancer genetics, prevention and treatment. As part of the
Breast Cancer Risk Evaluation Program, Dr. Domchek has
served as the site principal investigator on screening
studies performed through the Cancer Genetics Network. To
date, 100 women have joined the ovarian cancer screening
study through this mechanism, and an additional 27 women at
genetic risk for breast cancer participated in a
CGN-sponsored MRI screening study. In addition to her work
in the genetics clinic, Dr. Domchek is interested in the
use of novel therapeutics, particularly
immunotherapy-based, in the treatment of breast cancer. Dr.
Domchek is the principal investigator of Protocol 11102 at
the University of Pennsylvania, "Phase I study of
telomerase based peptide vaccination for patients with
advanced breast cancer".
Recent Representative Publications:
Domchek SM and Weber BL. Advances in breast cancer biology.
(2002). Current Opinions in Oncology; 14, 589-593.
Domchek SM. (2003). Chemoprevention in BRCA1 and BRCA2
mutation carriers, Seminars in Breast Disease, 6:30-33.
Bendell JC, Domchek SM, Burstein HJ, Harris LN, Younger J,
Kuter I, Bunnell C, Rue M, Gelman R, Winer EP. (2003).
Central nervous system metastases in women who receive
trastuzumab-based therapy for metastatic breast cancer.
Cancer 97, 2972-7.
Domchek SM, Eisen A, Calzone K, Stopfer J, Blackwood A,
Weber BL. (2003). Application of breast cancer risk
prediction models in clinical practice. Journal of Clinical
Oncology 21, 593-601.
Armstrong, K., Quistberg, D. A., Micco, E., Domchek, S.,
and Guerra, C. (2006). Prescription of tamoxifen for breast
cancer prevention by primary care physicians. Arch Intern
Med 166, 2260-5.
Halbert, C. H., Kessler, L., Stopfer, J. E., Domchek, S.,
and Wileyto, E. P. (2006). Low rates of acceptance of BRCA1
and BRCA2 test results among African American women at
increased risk for hereditary breast-ovarian cancer. Genet
Med 8, 576-82.
Halbert, C. H., Kessler, L., Wileyto, E. P., Weathers, B.,
Stopfer, J., Domchek, S., Collier, A., and Brewster, K.
(2006). Breast cancer screening behaviors among African
American women with a strong family history of breast
cancer. Prev Med 43, 385-8.
Narod, S. A., Lubinski, J., Ghadirian, P., Lynch, H. T.,
Moller, P., Foulkes, W. D., Rosen, B., Kim-Sing, C.,
Isaacs, C., Domchek, S., and Sun, P. (2006). Screening
mammography and risk of breast cancer in BRCA1 and BRCA2
mutation carriers: a case-control study. Lancet Oncol 7,
402-6.
Brooks, G. A., Stopfer, J. E., Erlichman, J., Davidson, R.,
Nathanson, K. L., and Domchek, S. M. (2006). Childhood
cancer in families with and without BRCA1 or BRCA2
mutations ascertained at a high-risk breast cancer clinic.
Cancer Biol Ther 5, 1098-102.
Domchek, S. M., Armstrong, K., and Weber, B. L. (2006).
Clinical management of BRCA1 and BRCA2 mutation carriers.
Nat Clin Pract Oncol 3, 2-3.
Domchek, S. M., Friebel, T. M., Neuhausen, S. L., Wagner,
T., Evans, G., Isaacs, C., Garber, J. E., Daly, M. B.,
Eeles, R., Matloff, E., Tomlinson, G. E., Van't Veer, L.,
Lynch, H. T., Olopade, O. I., Weber, B. L., and Rebbeck, T.
R. (2006). Mortality after bilateral salpingo-oophorectomy
in BRCA1 and BRCA2 mutation carriers: a prospective cohort
study. Lancet Oncol 7, 223-9.
Domchek, S. M., Stopfer, J. E., and Rebbeck, T. R. (2006).
Bilateral risk-reducing oophorectomy in BRCA1 and BRCA2
mutation carriers. J Natl Compr Canc Netw 4, 177-82.
Domchek, S. M., and Weber, B. L. (2006). Clinical
management of BRCA1 and BRCA2 mutation carriers. Oncogene
25, 5825-31.
Brewster, K., Wileyto, E. P., Kessler, L., Collier, A.,
Weathers, B., Stopfer, J. E., Domchek, S., and Halbert, C.
H. (2007). Sociocultural predictors of breast cancer risk
perceptions in African American breast cancer survivors.
Cancer Epidemiol Biomarkers Prev 16, 244-8.
Domchek, S. M., and Rebbeck, T. R. (2007). Prophylactic
oophorectomy in women at increased cancer risk. Curr Opin
Obstet Gynecol 19, 27-30.
Kotsopoulos, J., Ghadirian, P., El-Sohemy, A., Lynch, H.
T., Snyder, C., Daly, M., Domchek, S., Randall, S., Karlan,
B., Zhang, P., Zhang, S., Sun, P., and Narod, S. A. (2007).
The CYP1A2 genotype modifies the association between coffee
consumption and breast cancer risk among BRCA1 mutation
carriers. Cancer Epidemiol Biomarkers Prev 16, 912-6.
Kotsopoulos, J., Lubinski, J., Lynch, H. T., Klijn, J.,
Ghadirian, P., Neuhausen, S. L., Kim-Sing, C., Foulkes, W.
D., Moller, P., Isaacs, C., Domchek, S., Randall, S.,
Offit, K., Tung, N., Ainsworth, P., Gershoni-Baruch, R.,
Eisen, A., Daly, M., Karlan, B., Saal, H. M., Couch, F.,
Pasini, B., Wagner, T., Friedman, E., Rennert, G., Eng, C.,
Weitzel, J., Sun, P., and Narod, S. A. (2007). Age at first
birth and the risk of breast cancer in BRCA1 and BRCA2
mutation carriers. Breast Cancer Res Treat.
McLaughlin, J. R., Risch, H. A., Lubinski, J., Moller, P.,
Ghadirian, P., Lynch, H., Karlan, B., Fishman, D., Rosen,
B., Neuhausen, S. L., Offit, K., Kauff, N., Domchek, S.,
Tung, N., Friedman, E., Foulkes, W., Sun, P., and Narod, S.
A. (2007). Reproductive risk factors for ovarian cancer in
carriers of BRCA1 or BRCA2 mutations: a case-control study.
Lancet Oncol 8, 26-34.
Tchou, J., Ward, M. R., Volpe, P., Palma, M. D., Medina, C.
A., Sargen, M., Sonnad, S. S., Godwin, A. K., Daly, M.,
Winchester, D. J., Garber, J., Weber, B. L., Domchek, S.,
and Nathanson, K. L. (2007). Large Genomic Rearrangement in
BRCA1 and BRCA2 and Clinical Characteristics of Men with
Breast Cancer in the United States. Clin Breast Cancer 7,
627-33.
