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
Antimüllerian hormone levels are lower in BRCA2 mutation carriers.
Lauren N.C. Johnson,Mary D. Sammel,Susan M. Domchek,A. Schanne,Maureen Prewitt,Clarisa R. Gracia +5 more
TL;DR: Comparison of antimüllerian hormone levels in women at high risk for hereditary breast and ovarian cancer compared with healthy low-risk control women observed significantly lower AMH levels among BRCA2 carriers compared with low- risk control women.
Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers
Dylane M. Wineland,Anh N Le,Ryan Hausler,Gregory Kelly,Emanuel Barrett,Heena Desai,Bradley Wubbenhorst,John Pluta,Paul Bastian,Heather L. Symecko,Kurt D'Andrea,Abigail Doucette,Peter Gabriel,Kim A. Reiss,Anupma Nayak,Michael Feldman,Susan M. Domchek,Katherine L. Nathanson,Kara N. Maxwell +18 more
TL;DR: Assessment of biallelic loss and HRD could supplement identification of germline BRCA1/2 mutations in selection of patients for platinum or PARP inhibitor therapy.
Advancing Cancer Interception.
TL;DR: Targeted therapies and "immuno-interception" may eliminate premalignant lesions and require clinical trial and treatment paradigms altogether distinct from current approaches.
Randomized Noninferiority Trial of Telephone vs In-Person Disclosure of Germline Cancer Genetic Test Results
Angela R. Bradbury,Linda Patrick-Miller,Brian L. Egleston,Michael J. Hall,Susan M. Domchek,Mary B. Daly,Pamela S. Ganschow,Generosa Grana,Olufunmilayo I. Olopade,Dominique Fetzer,Amanda Brandt,Rachelle Chambers,Dana F Clark,Andrea Forman,Rikki Gaber,Cassandra Gulden,Janice Horte,Jessica M. Long,Terra Lucas,Shreshtha Madaan,Kristin Mattie,Danielle McKenna,Susan Montgomery,Sarah M. Nielsen,Jacquelyn Powers,Kim Rainey,Christina Rybak,Michelle Savage,Christina Seelaus,Jessica Stoll,Jill Stopfer,Xinxin Shirley Yao +31 more
TL;DR: Even in the era of multigene panel testing, these data suggest that telephone disclosure of cancer genetic test results is as an alternative to in-person disclosure for interested patients after in- person pretest counseling with a genetic counselor.
Polygenic risk modeling for prediction of epithelial ovarian cancer risk
Eileen Dareng,Jonathan Tyrer,Daniel R. Barnes,Michelle R. Jones,Xin Yang,Katja K.H. Aben,Muriel A. Adank,Simona Agata,Irene L. Andrulis,Hoda Anton-Culver,Natalia Antonenkova,Gerassimos Aravantinos,Banu Arun,Annelie Augustinsson,Judith Balmaña,Elisa V. Bandera,Rosa B. Barkardottir,Daniel Barrowdale,Matthias W. Beckmann,Alicia Beeghly-Fadiel,Javier Benitez,Marina Bermisheva,Marcus Q. Bernardini,Line Bjørge,Amanda Black,Natalia Bogdanova,Bernardo Bonanni,Åke Borg,James D. Brenton,Agnieszka Budzilowska,R. Butzow,Saundra S. Buys,Hui Cai,Maria A. Caligo,Ian G. Campbell,Rikki Cannioto,Hayley Cassingham,Jenny Chang-Claude,Stephen J. Chanock,Kexin Chen,Yoke-Eng Chiew,Wendy K. Chung,Kathleen Claes,Sarah Colonna,Linda S. Cook,Fergus J. Couch,Mary B. Daly,Fanny Dao,Eleanor Davies,M. De La Hoya,Robin de Putter,Joe Dennis,Allison DePersia,Peter Devilee,Orland Diez,Yuan Chun Ding,Jennifer A. Doherty,Susan M. Domchek,Thilo Dörk,Andreas du Bois,Matthias Dürst,Diana Eccles,Heather Eliassen,Christoph Engel,Gareth Evans,Peter A. Fasching,James M. Flanagan,Renée T. Fortner,Eva Machackova,Eitan Friedman,Patricia A. Ganz,Judy Garber,Francesca Gensini,Graham G. Giles,Gord Glendon,Andrew K. Godwin,Marc T. Goodman,Mark I. Greene,Jacek Gronwald,Eric Hahnen,Christopher A. Haiman,Niclas Håkansson,Ute Hamann,Thomas van Overeem Hansen,Holly R. Harris,Mikael Hartman,Florian Heitz,Michelle A.T. Hildebrandt,Estrid Høgdall,Claus Høgdall,John L. Hopper,Ruea-Yea Huang,Chad D. Huff,Peter J. Hulick,David G. Huntsman,Evgeny N. Imyanitov,Claudine Isaacs,Anna Jakubowska,Paul A. James,Ramunas Janavicius,Allan Jensen,Oskar T. Johannsson,Esther M. John,Michael Jones,Daehee Kang,Beth Y. Karlan,Anthony N. Karnezis,Linda E. Kelemen,Elza Khusnutdinova,Lambertus A. Kiemeney,Byoung-Gie Kim,Susanne K. Kjaer,Ian K. Komenaka,Jolanta Kupryjanczyk,Allison W. Kurian,Ava Kwong,Diether Lambrechts,Melissa C. Larson,Conxi Lázaro,Nhu D. Le,Goska Leslie,Jenny Lester,Fabienne Lesueur,Douglas A. Levine,Lian Li,Jingmei Li,Jennifer T. Loud,Karen H. Lu,Jan Lubinski,Phuong L. Mai,Siranoush Manoukian,Jeffrey R. Marks,Rayna K. Matsuno,Keitaro Matsuo,Taymaa May,Lesley McGuffog,John R. McLaughlin,Iain A. McNeish,Noura Mebirouk,Usha Menon,Austin Miller,Roger L. Milne,Albina N. Minlikeeva,Francesmary Modugno,Marco Montagna,Kirsten B. Moysich,Elizabeth G. Munro,Katherine L. Nathanson,Susan L. Neuhausen,Heli Nevanlinna,Joanne Ngeow Yuen Yie,Henriette Roed Nielsen,Finn Cilius Nielsen,Liene Nikitina-Zake,Kunle Odunsi,Kenneth Offit,Edith Olah,Siel Olbrecht,Olufunmilayo I. Olopade,Sara H. Olson,Håkan Olsson,Ana Osorio,Laura Papi,Sue K. Park,Michael T. Parsons,Harshad Pathak,Inge Søkilde Pedersen,Ana Peixoto,Tanja Pejovic,Pedro Pérez-Segura,Jennifer B. Permuth,Beth N. Peshkin,Paolo Peterlongo,Anna M. Piskorz,Darya Prokofyeva,Paolo Radice,Johanna Rantala,Marjorie J. Riggan,Harvey A. Risch,Cristina Rodríguez-Antona,Eric A. Ross,Mary Anne Rossing,Ingo B. Runnebaum,Dale P. Sandler,Marta Santamariña,Penny Soucy,Rita K. Schmutzler,Veronica Wendy Setiawan,Kang Shan,Weiva Sieh,Jacques Simard,Christian F. Singer,Anna P. Sokolenko,Honglin Song,Melissa C. Southey,Helen Steed,Dominique Stoppa-Lyonnet,Rebecca Sutphen,Anthony J. Swerdlow,Yen Y. Tan,Manuel R. Teixeira,Soo Hwang Teo,Kathryn L. Terry,Mary Beth Terry,Mads Thomassen,Pamela J. Thompson,Liv Cecilie Vestrheim Thomsen,Darcy L. Thull,Marc Tischkowitz,Linda J. Titus,Amanda E. Toland,Diana Torres,Britton Trabert,Ruth C. Travis,Nadine Tung,Shelley S. Tworoger,Elena Valen,Anne M. van Altena,Annemieke H. van der Hout,Els Van Nieuwenhuysen,Elizabeth J. van Rensburg,Ana Vega,Digna R. Velez Edwards,Robert A. Vierkant,Frances Wang,Barbara Wappenschmidt,Penelope M. Webb,Clarice R. Weinberg,Jeffrey N. Weitzel,Nicolas Wentzensen,Emily White,Alice S. Whittemore,Stacey J. Winham,Alicja Wolk,Yin Ling Woo,Anna H. Wu,Li Yan,Drakoulis Yannoukakos,Katia Zavaglia,Wei Zheng,Argyrios Ziogas,Kristin K. Zorn,Zdenek Kleibl,Douglas F. Easton,Kate Lawrenson,Antoinette DeFazio,Thomas A. Sellers,Susan J. Ramus,Celeste Leigh Pearce,Alvaro N.A. Monteiro,Julie M. Cunningham,Ellen L. Goode,Joellen M. Schildkraut,Andrew Berchuck,Georgia Chenevix-Trench,Simon A. Gayther,Antonis C. Antoniou,Paul D.P. Pharoah +257 more
TL;DR: In this article , the authors implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, "select and shrink for summary statistics" (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction.