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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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Journal ArticleDOI
Interest in and outcomes with return of individual genetic research results for inherited susceptibility to breast cancer.
Angela R. Bradbury,Linda Patrick-Miller,Brian L. Egleston,Kara N. Maxwell,Amanda Brandt,Jamie Brower,Laura DiGiovanni,Jessica M. Long,Jacquelyn Powers,Jill Stopfer,Katherine L. Nathanson,Susan M. Domchek +11 more
TL;DR: The obligation, risks, benefits and utilities of returning individual genetic research results (IRR) identified in gene discovery or translational re-expression was discussed in this paper. But, there was no discussion of the utility of returning IRR.
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Abstract 773: Early detection of ovarian cancer using cell-free DNA fragmentomes
Akshaya Annapragada,Jamie E. Medina,P Lof,Dimitrios Mathios,Zachariah H. Foda,Michaël Noë,Daniel C. Bruhm,Euihye Jung,Jenna Van Liere Canzoniero,Noushin Niknafs,Stephen Cristiano,Vilmos Adleff,Heather L. Symecko,Stephen B. Baylin,Michael F. Press,Dennis J. Slamon,Gottfried E. Konecny,Susan M. Domchek,Ronny Drapkin,Jillian Phallen,Robert B. Scharpf,Christianne A. R. Lok,Victor E. Velculescu +22 more
TL;DR: In this article , Akshaya V. Annapragada et al. used a DELFI (DNA evaluation of fragments for early interception) approach optimized for high specificity to detect high grade serous, endometrioid, mucinous and clear cell subtypes, and 223 without cancer.
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The future is 'PARP' - Phase-II-activity of PARP inhibitor among patients with BRCA-deficient breast cancer
Andrew Tutt,Mark E. Robson,Judy Garber,Susan M. Domchek,M. W. Audeh,Jeffrey N. Weitzel,M. Friedlander,Banu Arun,Niklas Loman,Rita K. Schmutzler,Andrew M Wardley,Gillian Mitchell,H. M. Earl,Mark Wickens,James Carmichael,Cornelia Liedtke +15 more
TL;DR: The results of this study provide positive proof of concept for PARP inhibition in BRCA-deficient breast cancers and shows a favourable therapeutic index for a novel targeted treatment strategy in patients with tumours that have genetic loss of function of BRCa1-associated orBRCA2-associated DNA repair.
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Reply to R.L. Nussbaum et al and J.S. Dolinsky et al.
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BRCA1/2 Mutations and Cardiovascular Function in Breast Cancer Survivors
Biniyam G. Demissei,Wenjian Lv,Nicholas S. Wilcox,Karyn Sheline,Amanda Smith,Kathleen M. Sturgeon,Chris McDermott-Roe,Kiran Musunuru,B Lefebvre,Susan M. Domchek,Payal D. Shah,Bonnie Ky +11 more
TL;DR: The findings do not support a role for increased cardiotoxicity risk with BRCA1/2 mutations in women with breast cancer and Doxorubicin caused a dose-dependent reduction in viability of iPSC-CMs in vitro without differences between BRCa1 mutant and wild type controls.