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Susan M. Domchek
Researcher at University of Pennsylvania
Publications - 501
Citations - 37655
Susan M. Domchek is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 83, co-authored 439 publications receiving 30495 citations. Previous affiliations of Susan M. Domchek include Brigham and Women's Hospital & Cancer Council Victoria.
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Panel testing for inherited susceptibility to breast, ovarian, and colorectal cancer.
TL;DR: Initial results obtained from tests using four multiplex panels performed in a Clinical Laboratory Improvement Amendments–certified commercial laboratory (Ambry Genetics) on a large series of individuals indicate that 8.3% had deleterious mutations in the genes tested, with frequencies ranging from 7.2% of those tested with the ovarian cancer panel to 9.6% with the “cancer” panel.
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The utility of ductal lavage in breast cancer detection and risk assessment.
TL;DR: Although DL appears safe and the device is approved by the US Food and Drug Administration, DL is still best utilized in the setting of clinical trials designed to resolve issues of sensitivity, specificity, and localization.
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Gemcitabine and Trastuzumab Combinations for Patients with Metastatic Breast Cancer Overexpressing HER2/neu
TL;DR: The rationale for a gemcitabine/trastuzumab combination in this disease entity and the available clinical data on the use of the combination are discussed and further work is currently ongoing to examine this promising combination.
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Cancer risk models: translating family history into clinical management.
TL;DR: The Cancer Genetics Network was used to validate prediction models in both clinic-based and population-based cohorts to validate the ability of 6 of these models to discriminate BRCA1 and BRCa2 mutation carriers from noncarriers.