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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
Abstract 1183: Mutation type and location in breast cancer susceptibility genes are associated with differential risk in the general population
Mwangala P. Akamandisa,Nicholas J. Boddicker,Chunling Hu,Siddhartha Yadav,Jeffrey N. Weitzel,Peter Kraft,Susan M. Domchek,Fergus J. Couch,Katherine L. Nathanson +8 more
TL;DR: Weitzel et al. as discussed by the authors used age-adjusted logistic regression to estimate odds ratios (OR), relative OR (rOR), and 95% confidence intervals (CI) for pathogenic variants (PVs) in well-established BC susceptibility genes.
Book ChapterDOI
Surgical Management of Inherited Susceptibility to Breast Cancer
TL;DR: This chapter reviews the available literature, including the indications for prophylactic mastectomy and risk-reducing salpingo-oophorectomy, as well as their risks and benefits.
Journal ArticleDOI
Breast cancer risk associated with missense variants in BRCA2.
Siddhartha Yadav,Marcy E. Richardson,Rachid Karam,Nicholas J. Boddicker,Chunling Hu,Y.A. Tecleab,Peter Kraft,Jeffrey N. Weitzel,Susan M. Domchek,Katherine L. Nathanson,Fergus J. Couch +10 more
TL;DR: In this paper , the results of the homology-directed DNA double-strand repair (HDR) assay along with clinical, structural, and in-silico data were applied to the rules-based ACMG/AMP criteria for variant classification to identify pathogenic/likely pathogenic (P/LP) variants and benign/likely benign (B/LB) variants.
Journal ArticleDOI
Reply to M.G. McNamara et al and M.S. Copur et al
TL;DR: The primary aim of this trial was to look for an efficacy signal in heavily pretreated patients with germline BRCA mutations and a wide range of cancers that included ovarian, breast, pancreatic, and prostate, as well as others.
Journal ArticleDOI
Abstract PD14-05: PD14-05 Prospective longitudinal validation of a breast cancer risk prediction model in a cohort of 130,058 women
Brent Mabey,Elisha Hughes,Braden Probst,Holly J. Pederson,T. Simmons,Brian Morris,B. Hullinger,Susan M. Domchek,Charis Eng,Monique Gary,Jennifer R. Klemp,Semanti Mukherjee,Vijai Joseph,Kenneth Offit,Olufunmilayo I. Olopade,Sandhya Pruthi,Allison W. Kurian,Mark E. Robson,Pat Whitworth,Susanne Wagner,Jerry S. Lanchbury,T.J. Slavin,Alexander Gutin +22 more
TL;DR: In this article , a pre-specified prospective longitudinal clinical validation of CRS as a predictor of breast cancer risk was performed, and the CRS calibration was evaluated by the ratio of observed (O) to expected (E) incident BCs for the full cohort, and for women split into event-based 5-year CRS risk deciles.