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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
Breast-cancer risk in families with mutations in PALB2
Antonis C. Antoniou,Silvia Casadei,Tuomas Heikkinen,Daniel Barrowdale,Katri Pylkäs,Jonathan Roberts,Andy C. H. Lee,Deepak Subramanian,Kim De Leeneer,Florentia Fostira,Eva Tomiak,Susan L. Neuhausen,Zhi Ling Teo,Sofia Khan,Kristiina Aittomäki,Jukka S. Moilanen,Clare Turnbull,Sheila Seal,Arto Mannermaa,Anne Kallioniemi,Geoffrey J. Lindeman,Saundra S. Buys,Irene L. Andrulis,Paolo Radice,Carlo Tondini,Siranoush Manoukian,Amanda E. Toland,Penelope Miron,Jeffrey N. Weitzel,Susan M. Domchek,Bruce Poppe,Kathleen Claes,Drakoulis Yannoukakos,Patrick Concannon,Jonine L. Bernstein,Paul A. James,Douglas F. Easton,David E. Goldgar,John L. Hopper,Nazneen Rahman,Paolo Peterlongo,Heli Nevanlinna,Mary Claire King,Fergus J. Couch,Melissa C. Southey,Robert Winqvist,William D. Foulkes,Marc Tischkowitz +47 more
TL;DR: Loss-of-function mutations have been identified in the PALB2 gene that also increase the risk of breast cancer and interacts with BRCa1 and BRCA2 genes.
Journal ArticleDOI
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
Siddhartha Yadav,Chunling Hu,Katherine L. Nathanson,Jeffrey N. Weitzel,David E. Goldgar,Peter Kraft,Rohan Gnanaolivu,Jie Na,Hongyan Huang,Nicholas J. Boddicker,Nicole L. Larson,Chi Gao,Song Yao,Clarice R. Weinberg,Celine M. Vachon,Amy Trentham-Dietz,Jack A. Taylor,Dale R Sandler,Alpa V. Patel,Julie R. Palmer,Janet E. Olson,Susan L. Neuhausen,Elena Martinez,Sara Lindstrom,James V. Lacey,Allison W. Kurian,Esther M. John,Christopher A. Haiman,Leslie Bernstein,Paul W. Auer,Hoda Anton-Culver,Christine B. Ambrosone,Rachid Karam,Elizabeth C. Chao,Amal Yussuf,Tina Pesaran,Jill S. Dolinsky,Steven N. Hart,Holly LaDuca,Eric C. Polley,Susan M. Domchek,Fergus J. Couch +41 more
TL;DR: The study establishes that PVs in ATM, BRCA2, CDH1, CHEK2 and PALB2 are associated with an increased risk of ILC, whereas BRCa1 PVs are not, and multigene panel testing may be appropriate for women with ILC.
Journal ArticleDOI
Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group.
Sarah M. Nielsen,Arcangela De Nicolo,Diana Eccles,Iris L. Romero,Susan M. Domchek,Alvaro N.A. Monteiro,David E. Goldgar,Amanda B. Spurdle,Encarna Gomez Garcia +8 more
TL;DR: Advances in massively parallel sequencing technologies have made multigene panels affordable and have revolutionized genetic testing for hereditary breast and ovarian cancer, according to the World Health Organization.
Proceedings ArticleDOI
Abstract P6-13-08: Palbociclib and paclitaxel on an alternating schedule for advanced breast cancer: Results of a phase Ib trial
AS Clark,Peter O'Dwyer,Andrea B. Troxel,Priti Lal,Michael Feldman,Maryann Gallagher,A Driscoll,Christopher Colameco,David A. Lewis,Mark A. Rosen,Jennifer M. Matro,A. R. Bradbury,Susan M. Domchek,Kevin Fox,AM DeMichele +14 more
TL;DR: The high response rate warrants a randomized trial to determine the incremental benefit over T alone and the optimal combination dose is 75 mg of P and 80mg/m2 of weekly T on an alternating dosing schedule.
Journal ArticleDOI
Outcomes following breast conservation versus mastectomy in BRCA1/2 carriers with early-stage breast cancer
Lori J. Pierce,Kent A. Griffith,Saundra S. Buys,David K. Gaffney,Bruce G. Haffty,Meena S. Moran,Merav A. Ben-David,Judy Garber,Sofia D. Merajver,Amichay Meirovitz,Susan M. Domchek +10 more
TL;DR: This data indicates that BCT and mastectomy should be considered as separate treatments for breast cancer in women with at least a 2-year history of PSA infection.