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
Vaccination of cancer patients against telomerase induces functional antitumor CD8+ T lymphocytes.
Robert H. Vonderheide,Susan M. Domchek,Joachim L. Schultze,Daniel J. George,Kara Hoar,Dih-Yih Chen,Katherine Stephans,Kenkichi Masutomi,Massimo Loda,Zhinan Xia,Karen S. Anderson,William C. Hahn,Lee M. Nadler +12 more
TL;DR: These results demonstrate the immunological feasibility of vaccinating patients against telomerase and provide rationale for targeting self-antigens with critical roles in oncogenesis.
Breast Cancer Predisposition Syndromes
Deborah Hemel,Susan M. Domchek +1 more
TL;DR: Advances in the field of breast cancer genetics have led to an improved understanding of detection and prevention strategies, and strategies to target the underlying genetic defects in BRCA1- and BRCa2-associated breast and ovarian cancers are emerging and may have implications for certain types of sporadic breast cancer.
Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers
Ignacio Blanco,Karoline Kuchenbaecker,Daniel Cuadras,Xianshu Wang,Daniel Barrowdale,Gorka Ruiz de Garibay,Pablo Librado,Alejandro Sánchez-Gracia,Julio Rozas,Núria Bonifaci,Lesley McGuffog,Vernon S. Pankratz,Abul B. M. M. K. Islam,Francesca Mateo,Antoni Berenguer,Anna Petit,Isabel Catala,Joan Brunet,Lídia Feliubadaló,Eva Tornero,Javier Benitez,Ana Osorio,Ramon Teresa,Cajal Teresa,Heli Nevanlinna,Kristiina Aittomäki,Banu Arun,Amanda E. Toland,Beth Y. Karlan,Christine Walsh,Jenny Lester,Mark H. Greene,Phuong L. Mai,Robert L. Nussbaum,Irene L. Andrulis,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Rosa B. Barkardottir,Anna Jakubowska,Jan Lubinski,Katarzyna Durda,Katarzyna Jaworska-Bieniek,Kathleen Claes,Tom Van Maerken,Orland Diez,Thomas Hansen,Lars Jønson,Anne-Marie Gerdes,Bent Ejlertsen,Miguel de la Hoya,Trinidad Caldés,Alison M. Dunning,Clare Oliver,Elena Fineberg,Margaret Cook,Susan Peock,Emma McCann,Alex Murray,Chris Jacobs,Gabriella Pichert,Fiona Lalloo,Carol Chu,Huw Dorkins,Joan Paterson,Kai Ren Ong,Manuel R. Teixeira,T. Teixeira,Frans B. L. Hogervorst,Annemarie H. van der Hout,Caroline Seynaeve,Rob B. van der Luijt,Marjolijn J. L. Ligtenberg,Peter Devilee,Juul T. Wijnen,Matti A. Rookus,Hanne Meijers-Heijboer,Marinus J. Blok,Ans M.W. van den Ouweland,Cora M. Aalfs,Gustavo C. Rodriguez,Kelly-Anne Phillips,Marion Piedmonte,Stacy Nerenstone,Victoria L. Bae-Jump,David M. O'Malley,Elena Ratner,Rita K. Schmutzler,Barbara Wappenschmidt,Kerstin Rhiem,Christoph Engel,Alfons Meindl,Nina Ditsch,Norbert Arnold,Hansjoerg Plendl,Dieter Niederacher,Christian Sutter,Shan Wang-Gohrke,Doris Steinemann,Sabine Preisler-Adams,Karin Kast,Raymonda Varon-Mateeva,Andrea Gehrig,Anders Bojesen,Inge Søkilde Pedersen,Lone Sunde,Uffe Birk Jensen,Mads Thomassen,Torben A Kruse,Lenka Foretova,Paolo Peterlongo,Loris Bernard,Bernard Peissel,Giulietta Scuvera,Siranoush Manoukian,Paolo Radice,Laura Ottini,Marco Montagna,Simona Agata,Christine Maugard,Jacques Simard,Penny Soucy,Andreas Berger,Anneliese Fink-Retter,Christian F. Singer,Christine Rappaport,Daphne Geschwantler-Kaulich,Muy Kheng Tea,Georg Pfeiler,Esther M. John,Alexander Miron,Susan L. Neuhausen,Mary Beth Terry,Wendy K. Chung,Mary B. Daly,David E. Goldgar,Ramunas Janavicius,Cecilia M. Dorfling,Elisabeth J. Van Rensburg,Florentia Fostira,Irene Konstantopoulou,Judy Garber,Andrew K. Godwin,Edith Olah,Steven A. Narod,Gad Rennert,Shani Shimon Paluch,Yael Laitman,Eitan Friedman,Eitan Friedman,Annelie Liljegren,Johanna Rantala,Marie Stenmark-Askmalm,Niklas Loman,Evgeny N. Imyanitov,Ute Hamann,Amanda B. Spurdle,Sue Healey,Jeffrey N. Weitzel,Josef Herzog,David Margileth,Chiara Gorrini,Manel Esteller,Antonio Gomez,Sergi Sayols,Enrique Vidal,Holger Heyn,Dominique Stoppa-Lyonnet,Mélanie Léoné,Laure Barjhoux,Marion Fassy-Colcombet,Antoine De Pauw,Christine Lasset,Sandra Fert Ferrer,Laurent Castera,Pascaline Berthet,François Cornelis,Yves-Jean Bignon,Francesca Damiola,Sylvie Mazoyer,Olga M. Sinilnikova,Christopher A. Maxwell,Joseph Vijai,Mark E. Robson,Noah D. Kauff,Marina Corines,Danylko Villano,Julie M. Cunningham,Adam M. Lee,Noralane M. Lindor,Conxi Lázaro,Douglas F. Easton,Kenneth Offit,Georgia Chenevix-Trench,Fergus J. Couch,Antonis C. Antoniou,Miguel Angel Pujana +196 more
TL;DR: The hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers is supported.
Breast cancer screening behaviors among African American women with a strong family history of breast cancer.
Chanita Hughes Halbert,Lisa Kessler,E. Paul Wileyto,Benita Weathers,Jill Stopfer,Susan M. Domchek,Aliya Collier,Kiyona Brewster +7 more
TL;DR: A complex pattern of breast cancer screening practices among African American women at increased risk for hereditary breast cancer is suggested.
Functional and clinical characterization of variants of uncertain significance identifies a hotspot for inactivating missense variants in RAD51C.
Chunling Hu,Anil Belur Nagaraj,Hermela Shimelis,Gemma Montalban,Kun Yeong Lee,Huaizhi Huang,Jie Na,Lisa Susswein,Maegan E. Roberts,Megan L. Marshall,Susan Hiraki,Holly LaDuca,Elizabeth C. Chao,Amal Yussuf,Tina Pesaran,Susan L. Neuhausen,Christopher A. Haiman,Peter Kraft,Sara Lindström,J. D. Palmer,Lauren R. Teras,Celine M. Vachon,Song Yao,Irene M. Ong,Katherine L. Nathanson,Jeffrey N. Weitzel,Nicholas J. Boddicker,Rohan Gnanaolivu,Eric C. Polley,Georges Mer,Gaofeng Cui,Rachid Karam,Marcy E. Richardson,Susan M. Domchek,Siddhartha Yadav,Kathleen S. Hruska,Jill S. Dolinsky,S. John Weroha,Steven N. Hart,Jacques Simard,Jean-Yves Masson,Yuan Ping Pang,Fergus J. Couch +42 more
TL;DR: In this paper , a homology-directed repair (HDR) assay in reconstituted RAD51C-/- cells identified 30 non-functional (deleterious) variants, including 18 in a hotspot within the ATP binding region.