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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
Large prospective study of ovarian cancer screening in high-risk women: CA125 cut-point defined by menopausal status.
Steven J. Skates,Phuong L. Mai,Nora Horick,Marion Piedmonte,Charles W. Drescher,Claudine Isaacs,Deborah K. Armstrong,Saundra S. Buys,Gustavo C. Rodriguez,Ira R. Horowitz,Andrew Berchuck,Mary B. Daly,Susan M. Domchek,David E. Cohn,Linda Van Le,John O. Schorge,William Newland,Susan A. Davidson,Mack N. Barnes,Wendy R. Brewster,Masoud Azodi,Stacy Nerenstone,Noah D. Kauff,Carol J. Fabian,Patrick M. Sluss,Susan G. Nayfield,Susan G. Nayfield,Carol Kasten,Dianne M. Finkelstein,Mark H. Greene,Karen H. Lu +30 more
TL;DR: To achieve a 2% false positive rate in ovarian cancer screening trials and in high-risk women choosing to be screened, the cut-point for initial CA125 testing should be personalized primarily for menopausal status (50 for premenopausal women, 40 for pre menopausal on OC, and 35 for post menopausal women).
Journal ArticleDOI
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Karoline Kuchenbaecker,Susan L. Neuhausen,Mark E. Robson,Daniel Barrowdale,Lesley McGuffog,Anna Marie Mulligan,Irene L. Andrulis,Amanda B. Spurdle,Marjanka K. Schmidt,Rita K. Schmutzler,Christoph Engel,Barbara Wappenschmidt,Heli Nevanlinna,Mads Thomassen,Melissa C. Southey,Paolo Radice,Susan J. Ramus,Susan M. Domchek,Katherine L. Nathanson,Andy C. H. Lee,Sue Healey,Robert L. Nussbaum,Timothy R. Rebbeck,Banu Arun,Paul A. James,Paul A. James,Beth Y. Karlan,Jenny Lester,Ilana Cass,Mary Beth Terry,Mary B. Daly,David E. Goldgar,Saundra S. Buys,Ramunas Janavicius,Laima Tihomirova,Nadine Tung,Cecilia M. Dorfling,Elizabeth J. van Rensburg,Linda Steele,Thomas Hansen,Bent Ejlertsen,Anne-Marie Gerdes,Finn Cilius Nielsen,Joe Dennis,Julie M. Cunningham,Steven N. Hart,Susan L. Slager,Ana Osorio,Javier Benitez,Mercedes Durán,Jeffrey N. Weitzel,Isaac Tafur,Mary Hander,Paolo Peterlongo,Siranoush Manoukian,Bernard Peissel,Gaia Roversi,Giulietta Scuvera,Bernardo Bonanni,Paolo Mariani,Sara Volorio,Riccardo Dolcetti,Liliana Varesco,Laura Papi,Maria Grazia Tibiletti,Giuseppe Giannini,Florentia Fostira,Irene Konstantopoulou,Judy Garber,Ute Hamann,Alan Donaldson,Carole Brewer,Claire Foo,D. Gareth Evans,Debra Frost,Diana Eccles,Fiona Douglas,Angela F. Brady,Jackie Cook,Marc Tischkowitz,Julian Adlard,Julian Barwell,Kai Ren Ong,Lisa Walker,Louise Izatt,Lucy Side,M. John Kennedy,Mark T. Rogers,Mary Porteous,Patrick J. Morrison,Radka Platte,Ros Eeles,Rosemarie Davidson,Shirley Hodgson,Steve Ellis,Andrew K. Godwin,Kerstin Rhiem,Alfons Meindl,Nina Ditsch,Norbert Arnold,Hansjoerg Plendl,Dieter Niederacher,Christian Sutter,Doris Steinemann,Nadja Bogdanova-Markov,Karin Kast,Raymonda Varon-Mateeva,Shan Wang-Gohrke,Andrea Gehrig,Birgid Markiefka,Bruno Buecher,Cédrick Lefol,Dominique Stoppa-Lyonnet,Etienne Rouleau,Fabienne Prieur,Francesca Damiola,Laure Barjhoux,Laurence Faivre,Michel Longy,Nicolas Sevenet,Olga M. Sinilnikova,Sylvie Mazoyer,Valérie Bonadona,Virginie Caux-Moncoutier,Claudine Isaacs,Tom Van Maerken,Kathleen Claes,Marion Piedmonte,Lesley Andrews,John L. Hays,Gustavo C. Rodriguez,Trinidad Caldés,Miguel de la Hoya,Sofia Khan,Frans B. L. Hogervorst,Cora M. Aalfs,J. L. de Lange,Hanne Meijers-Heijboer,Annemarie H. van der Hout,Juul T. Wijnen,K. E. P. van Roozendaal,Arjen R. Mensenkamp,Ans M.W. van den Ouweland,Carolien H.M. van Deurzen,Rob B. van der Luijt,Edith Olah,Orland Diez,Conxi Lázaro,Ignacio Blanco,Alex Teulé,Mireia Menéndez,Anna Jakubowska,Jan Lubinski,Cezary Cybulski,Jacek Gronwald,Katarzyna Jaworska-Bieniek,Katarzyna Durda,Adalgeir Arason,Christine Maugard,Penny Soucy,Marco Montagna,Simona Agata,Manuel R. Teixeira,Curtis Olswold,Noralane M. Lindor,Vernon S. Pankratz,Emily Hallberg,Xianshu Wang,Csilla Szabo,Joseph Vijai,Lauren Jacobs,Marina Corines,Anne Lincoln,Andreas Berger,Anneliese Fink-Retter,Christian F. Singer,Christine Rappaport,Daphne Gschwantler Kaulich,Georg Pfeiler,Muy Kheng Tea,Catherine M. Phelan,Phuong L. Mai,Mark H. Greene,Gad Rennert,Evgeny N. Imyanitov,Gord Glendon,Amanda E. Toland,Anders Bojesen,Inge Søkilde Pedersen,Uffe Birk Jensen,Maria A. Caligo,Eitan Friedman,Raanan Berger,Yael Laitman,Johanna Rantala,Brita Arver,Niklas Loman,Åke Borg,Hans Ehrencrona,Hans Ehrencrona,Olufunmilayo I. Olopade,Jacques Simard,Douglas F. Easton,Georgia Chenevix-Trench,Kenneth Offit,Fergus J. Couch,Antonis C. Antoniou,Cimba,Study Embrace Study,Hebon,Investigators KConFab Investigators +210 more
TL;DR: Differences in associations of common BC susceptibility alleles between BRCA1 and BRCa2 carriers and the general population are explained to a large extent by differences in the prevalence of ER-positive and ER-negative tumors.
Journal ArticleDOI
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.
Journal ArticleDOI
A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk
Yingchang Lu,Alicia Beeghly-Fadiel,Lang Wu,Xingyi Guo,Bingshan Li,Joellen M. Schildkraut,Hae Kyung Im,Yian Ann Chen,Jennifer B. Permuth,Brett M. Reid,Jamie K. Teer,Kirsten B. Moysich,Irene L. Andrulis,Irene L. Andrulis,Hoda Anton-Culver,Banu Arun,Elisa V. Bandera,Rosa B. Barkardottir,Daniel R. Barnes,Javier Benitez,Line Bjørge,James D. Brenton,Ralf Bützow,Trinidad Caldés,Maria A. Caligo,Ian G. Campbell,Ian G. Campbell,Jenny Chang-Claude,Jenny Chang-Claude,Kathleen Claes,Fergus J. Couch,Daniel W. Cramer,Daniel W. Cramer,Mary B. Daly,Anna deFazio,Anna deFazio,Joe Dennis,Orland Diez,Susan M. Domchek,Thilo Dörk,Douglas F. Easton,Diana Eccles,Peter A. Fasching,Peter A. Fasching,Renée T. Fortner,George Fountzilas,Eitan Friedman,Eitan Friedman,Patricia A. Ganz,Judy Garber,Graham G. Giles,Graham G. Giles,Graham G. Giles,Andrew K. Godwin,David E. Goldgar,Marc T. Goodman,Mark H. Greene,Jacek Gronwald,Ute Hamann,Florian Heitz,Michelle A.T. Hildebrandt,Claus Høgdall,Antoinette Hollestelle,Peter J. Hulick,Peter J. Hulick,David G. Huntsman,David G. Huntsman,Evgeny N. Imyanitov,Claudine Isaacs,Anna Jakubowska,Paul A. James,Paul A. James,Beth Y. Karlan,Linda E. Kelemen,Lambertus A. Kiemeney,Susanne K. Kjaer,Ava Kwong,Nhu D. Le,Goska Leslie,Fabienne Lesueur,Douglas A. Levine,Douglas A. Levine,Amalia Mattiello,Taymaa May,Lesley McGuffog,Iain A. McNeish,Melissa A. Merritt,Melissa A. Merritt,Francesmary Modugno,Marco Montagna,Susan L. Neuhausen,Heli Nevanlinna,Finn Cilius Nielsen,Liene Nikitina-Zake,Robert L. Nussbaum,Kenneth Offit,Edith Olah,Olufunmilayo I. Olopade,Sara H. Olson,Håkan Olsson,Ana Osorio,Sue K. Park,Sue K. Park,Michael T. Parsons,Petra H.M. Peeters,Tanja Pejovic,Paolo Peterlongo,Catherine M. Phelan,Miguel Angel Pujana,Susan J. Ramus,Susan J. Ramus,Gad Rennert,Harvey A. Risch,Gustavo C. Rodriguez,Cristina Rodríguez-Antona,Isabelle Romieu,Matti A. Rookus,Mary Anne Rossing,Mary Anne Rossing,Iwona K. Rzepecka,Dale P. Sandler,Rita K. Schmutzler,Veronica Wendy Setiawan,Priyanka Sharma,Weiva Sieh,Jacques Simard,Christian F. Singer,Honglin Song,Melissa C. Southey,Amanda B. Spurdle,Rebecca Sutphen,Anthony J. Swerdlow,Manuel R. Teixeira,Soo Hwang Teo,Mads Thomassen,Marc Tischkowitz,Marc Tischkowitz,Amanda E. Toland,Antonia Trichopoulou,Nadine Tung,Shelley S. Tworoger,Elizabeth J. van Rensburg,Adriaan Vanderstichele,Ana Vega,Digna R. Velez Edwards,Penelope M. Webb,Jeffrey N. Weitzel,Nicolas Wentzensen,Emily White,Emily White,Alicja Wolk,Anna H. Wu,Drakoulis Yannoukakos,Kristin K. Zorn,Simon A. Gayther,Simon A. Gayther,Antonis C. Antoniou,Andrew Berchuck,Ellen L. Goode,Georgia Chenevix-Trench,Thomas A. Sellers,Paul D.P. Pharoah,Wei Zheng,Jirong Long +163 more
TL;DR: The authors performed a transcriptome-wide association study to search for novel genetic loci and plausible causal genes at known GWAS loci, and identified 35 genes, including FZD4 at 11q14.2 (Z = 5.08, P = 3.47 × 10-3), a potential novel locus for EOC risk.
Journal ArticleDOI
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Joanne Kotsopoulos,Jan Lubinski,Henry T. Lynch,Jan Klijn,Parviz Ghadirian,Susan L. Neuhausen,Charmaine Kim-Sing,William D. Foulkes,Pål Møller,Claudine Isaacs,Susan M. Domchek,Susan Randall,Kenneth Offit,Nadine Tung,Peter Ainsworth,Ruth Gershoni-Baruch,Andrea Eisen,Mary B. Daly,Beth Y. Karlan,Howard M. Saal,Fergus J. Couch,Barbara Pasini,T Wagner,Eitan Friedman,Eitan Friedman,Gad Rennert,Charis Eng,Charis Eng,Jeffrey N. Weitzel,Ping Sun,Steven A. Narod,Judy Garber,Michael P. Osborne,David A. Fishman,J. McLennan,Wendy McKinnon,Sofia D. Merajver,Håkan Olsson,D. Provencher,Boris Pasche,Gareth Evans,W. S. Meschino,Edmond G. Lemire,Albert E. Chudley,Daniel Rayson,C Bellati +45 more
TL;DR: It is suggested that an early first full-term birth does not confer protection against breast cancer in BRCA mutation carriers and opting for a prophylactic oophorectomy as a breast and/or ovarian cancer risk-reducing strategy should complete childbearing prior to age 40 when this prevention modality is most effective.