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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
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Ana Osorio,Roger L. Milne,Guillermo Pita,Paolo Peterlongo,Tuomas Heikkinen,Jacques Simard,Georgia Chenevix-Trench,Amanda B. Spurdle,Jonathan Beesley,Xiaoqing Chen,Sue Healey,Susan L. Neuhausen,Yuan Chun Ding,Fergus J. Couch,Xianshu Wang,Noralane M. Lindor,Siranoush Manoukian,M. Barile,Alessandra Viel,Laura Tizzoni,Csilla Szabo,Lenka Foretová,Michal Zikan,Kathleen Claes,Mark H. Greene,Phuong L. Mai,Gad Rennert,Flavio Lejbkowicz,Ofra Barnett-Griness,Irene L. Andrulis,Irene L. Andrulis,Hilmi Ozcelik,Nayana Weerasooriya,Anne-Marie Gerdes,Mads Thomassen,Dorthe G. Crüger,Maria A. Caligo,Eitan Friedman,Eitan Friedman,Bella Kaufman,Bella Kaufman,Yael Laitman,Scott A. Cohen,T. Kontorovich,Ruth Gershoni-Baruch,Efrat Dagan,Helena Jernström,Marie Stenmark Askmalm,Brita Arver,Beatrice Malmer,Susan M. Domchek,Katherine L. Nathanson,Joan Brunet,T. Ramón y Cajal,Drakoulis Yannoukakos,Ute Hamann,Frans B. L. Hogervorst,Senno Verhoef,E. B Gómez Garcíla,Juul T. Wijnen,A. M. W. Van Den Ouweland,Douglas F. Easton,Susan Peock,M. Cook,Clare Oliver,Debra Frost,Craig Luccarini,D G R Evans,Fiona Lalloo,Rosalind A. Eeles,Gabriella Pichert,J. Cook,Shirley Hodgson,Patrick J. Morrison,Fiona Douglas,A. K. Godwin,Olga M. Sinilnikova,Laure Barjhoux,Dominique Stoppa-Lyonnet,V. Moncoutier,S. Giraud,C. Cassini,L. Olivier-Faivre,Françoise Révillion,Jean-Philippe Peyrat,Danièle Muller,Jean-Pierre Fricker,Henry T. Lynch,Esther M. John,Saundra S. Buys,M. Daly,John L. Hopper,M. B. Terry,A. Miron,Yosuf Yassin,David E. Goldgar,Christian F. Singer,Daphne Gschwantler-Kaulich,Georg Pfeiler,A. C. Spiess,Thomas v O Hansen,Oskar T. Johannsson,Tomas Kirchhoff,Kenneth Offit,Kristi Kosarin,Marion Piedmonte,Gustavo C. Rodriguez,Katie Wakeley,John F. Boggess,Jack Basil,Peter E. Schwartz,Stephanie V. Blank,Amanda E. Toland,M. Montagna,Cinzia Casella,Evgeny N. Imyanitov,Anna Allavena,Rita K. Schmutzler,B. Versmold,C. Engel,Alfons Meindl,N. Ditsch,Norbert Arnold,Dieter Niederacher,H. Deiler,Britta Fiebig,Raymonda Varon-Mateeva,Dieter Schaefer,Ursula G. Froster,T. Caldes,M. De La Hoya,Lesley McGuffog,Antonis C. Antoniou,Heli Nevanlinna,Paolo Radice,Javier Benitez +135 more
TL;DR: The role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCa2 mutation carriers is evaluated.
Journal ArticleDOI
P1.15-004 An Open-Label, Multitumor Phase II Basket Study of Olaparib and Durvalumab (MEDIOLA): Results in Patients with Relapsed SCLC
Matthew G Krebs,Kate Ross,Sang-We Kim,M.J.A. de Jonge,Fabrice Barlesi,Sophie Postel-Vinay,Susan M. Domchek,Ju Hyun Lee,Helen K. Angell,K. Bui,S. Chang,C. Gresty,P. Herbolsheimer,Jean-Pierre Delord +13 more
Journal ArticleDOI
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Ana-Teresa Maia,Antonis C. Antoniou,Martin O'Reilly,Shamith A. Samarajiwa,Mark J Dunning,Christiana Kartsonaki,Suet-Feung Chin,Christina Curtis,Lesley McGuffog,Susan M. Domchek,Douglas F. Easton,Susan Peock,Debra Frost,D G R Evans,Ros Eeles,Louise Izatt,Julian Adlard,Diana Eccles,Olga M. Sinilnikova,Sylvie Mazoyer,Dominique Stoppa-Lyonnet,Marion Gauthier-Villars,Laurence Faivre,Laurence Venat-Bouvet,Capucine Delnatte,Heli Nevanlinna,Fergus J. Couch,Andrew K. Godwin,Maria A. Caligo,Rosa B. Barkardottir,Xiaoqing Chen,Jonathan Beesley,Sue Healey,Carlos Caldas,Georgia Chenevix-Trench,Bruce A.J. Ponder +35 more
TL;DR: This work identified small-effect genetic variants associated with allelic expression differences in BRCA2 which could possibly affect the risk in mutation carriers through altering expression levels of the wild-type allele.
Journal ArticleDOI
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Olga M. Sinilnikova,A C Antoniou,Jacques Simard,Sue Healey,Mélanie Léoné,Daniel Sinnett,Amanda B. Spurdle,Jonathan Beesley,Xiaoqing Chen,kConFab,Mark H. Greene,Jennifer T. Loud,Flavio Lejbkowicz,Gad Rennert,Sara Dishon,Irene L. Andrulis,Ocgn,Susan M. Domchek,Katherine L. Nathanson,Siranoush Manoukian,Paolo Radice,Irene Konstantopoulou,Ignacio Blanco,A L Laborde,Mercedes Durán,Ana Osorio,Javier Benitez,U Hamann,Frans B. L. Hogervorst,T. A. M. van Os,Hans J. J. P. Gille,Hebon,Susan Peock,M. Cook,Craig Luccarini,D. G. Evans,Fiona Lalloo,Rosalind A. Eeles,Gabriella Pichert,Rosemarie Davidson,Trevor Cole,Jacqueline Cook,Joan Paterson,Carole Brewer,Embrace,David J. Hughes,Isabelle Coupier,S. Giraud,Florence Coulet,Chrystelle Colas,Florent Soubrier,Etienne Rouleau,Ivan Bièche,Rosette Lidereau,Liliane Demange,Catherine Noguès,Henry T. Lynch,Gemo,Rita K. Schmutzler,Beatrix Versmold,Christoph Engel,Alfons Meindl,Norbert Arnold,Christian Sutter,Helmut Deissler,Dieter Schaefer,Ursula G. Froster,Gc-Hboc,Kristiina Aittomäki,Heli Nevanlinna,Lesley McGuffog,Douglas F. Easton,Georgia Chenevix-Trench,Dominique Stoppa-Lyonnet +73 more
TL;DR: There was no evidence that TP53 Arg72Pro or MDM2 309T>G, either singly or in combination, influence breast cancer risk in BRCA1 or BRCa2 mutation carriers.
Journal ArticleDOI
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative.
Kelsey S. Lau-Min,Stephanie Byers Asher,Jessica A. Chen,Susan M. Domchek,Michael Feldman,Steven Joffe,Jeffrey Landgraf,Virginia Speare,Lisa A. Varughese,Sony Tuteja,Christine VanZandbergen,Marylyn D. Ritchie,Katherine L. Nathanson +12 more