Susan M. Domchek
University of Pennsylvania
535 Papers
2.1K Citations
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. Previous affiliations of Susan M. Domchek include Brigham and Women's Hospital & Cancer Council Victoria.
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Papers
Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy
Lori J. Pierce,Kelly-Anne Phillips,Kent A. Griffith,Saundra S. Buys,David K. Gaffney,Meena S. Moran,Bruce G. Haffty,Merav A. Ben-David,Bella Kaufman,Judy Garber,Sofia D. Merajver,Judith Balmaña,Amichay Meirovitz,Susan M. Domchek +13 more
TL;DR: In conclusion, BRCA1/2 mutation carriers with breast cancer have similar survival whether treated with M or BCT, however, women undergoing BCT have an elevated risk of a second in-breast event that is significantly reduced in the presence of chemotherapy.
Cancer yield of mammography, MR, and US in high-risk women: prospective multi-institution breast cancer screening study.
Constance D. Lehman,Claudine Isaacs,Mitchell D. Schnall,Etta D. Pisano,Susan M. Ascher,Paul T. Weatherall,David A. Bluemke,Deborah J. Bowen,P. Kelly Marcom,Deborah K. Armstrong,Susan M. Domchek,Gail E. Tomlinson,Steven J. Skates,Constantine Gatsonis +13 more
TL;DR: Screening MR imaging had a higher biopsy rate but helped detect more cancers than either mammography or US, and US had the highest false-negative rate compared with mammography and MR.
A classification model for BRCA2 DNA binding domain missense variants based on homology directed repair activity
Lucia Guidugli,Vernon S. Pankratz,Namit Singh,James R. Thompson,Catherine A. Erding,Christoph Engel,Rita K. Schmutzler,Susan M. Domchek,Katherine L. Nathanson,Paolo Radice,Christian F. Singer,Patricia N. Tonin,Noralane M. Lindor,David E. Goldgar,Fergus J. Couch +14 more
TL;DR: In the absence of genetic evidence, a cell-based HDR assay can provide a probability of pathogenicity for all VUS in the BRCA2 DBD, suggesting that the assay can be used in combination with other information to determine the cancer relevance of B RCA2 VUS.
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.
Kelly A. Metcalfe,Daphna Birenbaum-Carmeli,Jan Lubinski,Jacek Gronwald,Henry T. Lynch,Pål Møller,Parviz Ghadirian,William D. Foulkes,Jan Klijn,Eitan Friedman,Eitan Friedman,Charmaine Kim-Sing,Peter Ainsworth,B. Rosen,Susan M. Domchek,T Wagner,Nadine Tung,Siranoush Manoukian,Fergus J. Couch,Ping Sun,Steven A. Narod,M. Daly,Howard M. Saal,Kevin Sweet,Dominique Stoppa Lyonnet,A. Eisen,G. Rennen,J. McLennan,Ruth Gershoni-Baruch,Judy Garber,Shelly Cummings,J. N. Weitzel,Beth Y. Karlan,Raluca N. Kurz,Wendy McKinnon,Marie E. Wood,Dawna Gilchrist,Albert E. Chudley,Michael P. Osborne,David A. Fishman,W. S. Meschino,Edmond G. Lemire,Christine Maugard,Gordon B. Mills,Sofia D. Merajver,Daniel Rayson,J. M. Collee +46 more
TL;DR: Nearly one‐half of the women at risk for breast cancer had taken no preventive option, relying solely on screening, and there were large differences in the uptake of the different preventive options by country of residence.
Quantitative assessment of background parenchymal enhancement in breast MRI predicts response to risk-reducing salpingo-oophorectomy: preliminary evaluation in a cohort of BRCA1/2 mutation carriers.
Shandong Wu,Shandong Wu,Susan P. Weinstein,Michael J. DeLeo,Emily F. Conant,Jinbo Chen,Susan M. Domchek,Despina Kontos +7 more
TL;DR: Quantitative measures of BPE and FGT are different before and after RRSO, and their relative changes are associated with prediction of developing breast cancer, potentially indicative of women who are more susceptible to develop breast cancer after R RSO in BRCA1/2 mutation carriers.