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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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Trends in and determinants of germline BRCA1/2 testing in patients with breast and ovarian cancer.
TL;DR: Although Germline BRCA1/2 testing (GT) has increased since PARPi were approved for this population, significant disparities by age, race and insurance status persist but differ by tumor type.
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Harnessing olaparib, palbociclib, and endocrine therapy: A phase I/II trial of olaparib, palbociclib and fulvestrant in patients with BRCA mutation-associated, hormone receptor-positive, human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (HOPE).
Alexandra Torres,Megan Aaron,Lisa White,Kurt D'Andrea,Vivek Narayan,Hayley Knollman,Angela R. Bradbury,Nadine Tung,Mark E. Robson,Katherine L. Nathanson,Susan M. Domchek,Payal D. Shah +11 more
TL;DR: The HOPE (NCT03685331) trial as mentioned in this paper is a phase I/II trial to evaluate safety and efficacy of poly-ADP ribose polymerase inhibitor (PARPi) olaparib (O) in patients with g/s BRCA1/2-associated, HR+ MBC.
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Abstract A003: Risks of ductal carcinoma in situ of the breast associated with pathogenic variants in cancer predisposition genes
Huaizhi Huang,Ronan E. Couch,Holly LaDuca,Siddhartha Yadav,Eric C. Polley,Nicholas J. Boddicker,Jie Na,Rohan Gnanaolivu,David E. Goldgar,Tina Pesaran,Steven N. Hart,Jill S. Dolinsky,J. D. Palmer,Lauren R. Teras,Alpa V. Patel,Kathryn J. Ruddy,Janet E. Olson,Celine M. Vachon,Peter Kraft,Song Yao,Amy Trentham-Dietz,Katherine L. Nathanson,Jeffrey N. Weitzel,Susan M. Domchek,Fergus J. Couch,Chunling Hu +25 more
TL;DR: Huang et al. as discussed by the authors determined the risks of DCIS and contralateral breast cancer among women with DCIS associated with germline PVs in cancer predisposition genes and showed that the frequency of PVs among DCIS cases was 6.9% in the clinical testing cohort and 4.9 percent in the population-based cohort.
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Author / Subject Index
Victor B. Penchaszadeh,Deborah J. Bowen,Thuy Vu,Carol Kasten-Sportes,Lisa Kessler,Susan M. Domchek,Jill Stopfer,Chanita Hughes Halbert,Betty J. May,Issie L. Jenkins,Constance A. Griffin,Sharon J. Olsen,Kathryn T. Malvern,Annette R. Patterson,Helen Davis,Kristin Shelby,Jerry McCoy,Linda Robinson,Smita K. Rao,Pia Banerji,Gail E. Tomlinson,Sandra García Arámburo,Lari Wenzel,Deborah J. Bowen,Rana Habbal,Nancy Leighton,Hoda Anton-Culver,Rosalina D. James,Joon-Ho Yu,Nora B. Henrikson,Stephanie M. Fullerton,Celette Sugg Skinner,Joellen M. Schildkraut,Brian Calingaert,Cathrine Hoyo,Sydnee Crankshaw,L. Fish,Lisa Susswein,C. Jasper,LaVerne Reid,Amelie G. Ramirez,Alexander R. Miller,Kipling J. Gallion,Sandra San Miguel de Majors,Patricia Chalela +44 more
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Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C.
Chunling Hu,Anil Belur Nagaraj,Hermela Shimelis,Gemma Montalban,Kun Yeong Lee,Huaizhi Huang,Jie Na,Lisa Susswein,Maegan E. Roberts,Megan L. Marshall,Susan Hiraki,Holly LaDuca,Elizabeth C. Chao,Amal Yussuf,Tina Pesaran,Susan L. Neuhausen,Christopher A. Haiman,Peter Kraft,Sara Lindström,J. D. Palmer,Lauren R. Teras,Celine M. Vachon,Song Yao,Irene M. Ong,Katherine L. Nathanson,Jeffrey N. Weitzel,Nicholas J. Boddicker,Rohan Gnanaolivu,Eric C. Polley,Georges Mer,Gaofeng Cui,Rachid Karam,Marcy E. Richardson,Susan M. Domchek,Siddhartha Yadav,Kathleen S. Hruska,Jill S. Dolinsky,S. John Weroha,Steven N. Hart,Jacques Simard,Jean-Yves Masson,Yuan Ping Pang,Fergus J. Couch +42 more
TL;DR: In this paper , a homology-directed repair (HDR) assay in reconstituted RAD51C-/- cells identified 30 non-functional (deleterious) variants, including 18 in a hotspot within the ATP binding region.