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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
RE: Breast Cancer Risk After Salpingo-Oophorectomy in Healthy BRCA1/2 Mutation Carriers: Revisiting the Evidence for Risk Reduction
TL;DR: In this article, Heemskerk-Gerritsen et al. investigated the effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk.
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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group
Sarah M. Nielsen,Sarah M. Nielsen,Diana Eccles,Iris L. Romero,Fahd Al-Mulla,Judith Balmaña,Michela Biancolella,Rien Blok,Maria A. Caligo,Mariarosaria Calvello,Gabriele Lorenzo Capone,Pietro Cavalli,T. L. Chris Chan,Kathleen Claes,Laura Cortesi,Fergus J. Couch,Miguel de la Hoya,Simona De Toffol,Orland Diez,Susan M. Domchek,Ros Eeles,Anna Efremidis,Florentia Fostira,David E. Goldgar,Andreas Hadjisavvas,Thomas Hansen,Akira Hirasawa,Claude Houdayer,Petra Kleiblova,Sophie Krieger,Conxi Lázaro,Maria A. Loizidou,Siranoush Manoukian,Arjen R. Mensenkamp,Setareh Moghadasi,Alvaro N.A. Monteiro,Luigi Mori,April Morrow,Nadia Naldi,Henriette Roed Nielsen,Olufunmilayo I. Olopade,Nicholas Pachter,Edenir Inêz Palmero,Inge Søkilde Pedersen,Maria Piane,Marianna Puzzo,Mark E. Robson,Maria Rossing,Maria Christina Sini,Angela R. Solano,Jana Soukupova,Gianluca Tedaldi,Manuel R. Teixeira,Mads Thomassen,Maria Grazia Tibiletti,Amanda E. Toland,Therese Törngren,Erica Vaccari,Liliana Varesco,Ana Vega,Yvonne Wallis,Barbara Wappenschmidt,Jeffrey N. Weitzel,Amanda B. Spurdle,Arcangela De Nicolo,Encarna B. Gomez-Garcia +65 more
TL;DR: A snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers is described, showing that a small number of genes beyond BRCA1/2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion.
Journal Article
Preventive surgery is associated with reduced cancer risk and mortality in women with BRCA1 and BRCA2 mutations.
TL;DR: The results of the latest, largest, multinational study on the effects of preventive surgery in BRCA1/2 mutation carriers are consistent with earlier studies and provide strong evidence for the use of preventive operations as an effective approach to managing this genetic risk.
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Is hormone replacement therapy (HRT) following risk-reducing salpingo-oophorectomy (RRSO) in BRCA1 (B1)- and BRCA2 (B2)-mutation carriers associated with an increased risk of breast cancer?
Susan M. Domchek,Tara M. Friebel,Susan L. Neuhausen,Henry T. Lynch,Christian F. Singer,Rosalind A. Eeles,Claudine Isaacs,Nadine Tung,Patricia A. Ganz,Fergus J. Couch,J. N. Weitzel,O. I. Olopade,Wendy S. Rubinstein,Gail E. Tomlinson,Gabriella Pichert,M. B. Daly,Ellen T. Matloff,D G R Evans,Judy Garber,Timothy R. Rebbeck +19 more
TL;DR: In this prospective study of 1,299 B1 and B2 mutation carriers, HRT following RRSO was not associated with an increased risk of breast cancer.
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Follow-up Frequency and Compliance in Women with Probably Benign Findings on Breast Magnetic Resonance Imaging
TL;DR: Adherence to BI-RADS category 3 follow-up recommendation is often low and women with a history of breast cancer or who were BRCA carriers were significantly more likely to adhere to follow- up recommendation.