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
Abstract GS1-09: OlympiA: A phase 3, multicenter, randomized, placebo-controlled trial of adjuvant olaparib after (neo)adjuvant chemotherapy in patients w/ germline BRCA1 & BRCA2 pathogenic variants & highrisk HER2-negative primary breast cancer:
Judy E. Garber,D. Cameron,Christine Campbell,Greg Yothers,Maria Taboada,Sarra El-Abed,Priya Rastogi,Vicki Paterson,Stephanie Zafonte,Xiaochun Liu,G. Viale,Tanja Spanic,Rita Schmutzler,M. Piccart,S. Loibl,Barbro Linderholm,Sunil R. Lakhani,L. Korde,M. Gnant,Karen A. Gelmon,Sue Friedman,Tanner Freeman,Susan M. Domchek,Gursel Aktan,R. Gelber,Charles E. Geyer,A. Tutt +26 more
Is hormone replacement therapy (HRT) following risk-reducing salpingo-oophorectomy (RRSO) in BRCA1 (B1)- and BRCA2 (B2)-mutation carriers associated with an increased risk of breast cancer?
Susan M. Domchek,Tara M. Friebel,Susan L. Neuhausen,Henry T. Lynch,Christian F. Singer,Rosalind A. Eeles,Claudine Isaacs,Nadine Tung,Patricia A. Ganz,Fergus J. Couch,J. N. Weitzel,O. I. Olopade,Wendy S. Rubinstein,Gail E. Tomlinson,Gabriella Pichert,M. B. Daly,Ellen T. Matloff,D G R Evans,Judy Garber,Timothy R. Rebbeck +19 more
TL;DR: In this prospective study of 1,299 B1 and B2 mutation carriers, HRT following RRSO was not associated with an increased risk of breast cancer.
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Kate M. Im,Tomas Kirchhoff,Xianshu Wang,Todd Green,Clement Y. Chow,Joseph Vijai,Joshua M. Korn,Mia M. Gaudet,Zachary S. Fredericksen,V. Shane Pankratz,Candace Guiducci,Andrew Crenshaw,Lesley McGuffog,Christiana Kartsonaki,Jonathan J. Morrison,Sue Healey,Olga M. Sinilnikova,Phuong L. Mai,Mark H. Greene,Marion Piedmonte,Wendy S. Rubinstein,Frans B. L. Hogervorst,Matti A. Rookus,J. Margriet Collée,Nicoline Hoogerbrugge,Christi J. van Asperen,Hanne Meijers-Heijboer,Cees E. Van Roozendaal,Trinidad Caldés,Pedro Pérez-Segura,Anna Jakubowska,Jan Lubinski,Tomasz Huzarski,Paweł Blecharz,Heli Nevanlinna,Kristiina Aittomäki,Conxi Lázaro,Ignacio Blanco,Rosa B. Barkardottir,Marco Montagna,Emma D'Andrea,Peter Devilee,Olufunmilayo I. Olopade,Susan L. Neuhausen,Bernard Peissel,Bernardo Bonanni,Paolo Peterlongo,Christian F. Singer,Gad Rennert,Flavio Lejbkowicz,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Amanda E. Toland,Maria A. Caligo,Mary S. Beattie,Salina Chan,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Catherine M. Phelan,Steven A. Narod,Esther M. John,John L. Hopper,Saundra S. Buys,Mary B. Daly,Melissa C. Southey,Mary Beth Terry,Nadine Tung,Thomas Hansen,Ana Osorio,Javier Benitez,Mercedes Durán,Jeffrey N. Weitzel,Judy Garber,Ute Hamann,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Radka Platte,D. Gareth Evans,Ros Eeles,Louise Izatt,Joan Paterson,Carole Brewer,Shirley Hodgson,Patrick J. Morrison,Mary Porteous,Lisa Walker,Mark T. Rogers,Lucy Side,Andrew K. Godwin,Rita K. Schmutzler,Barbara Wappenschmidt,Yael Laitman,Alfons Meindl,Helmut Deissler,Raymonda Varon-Mateeva,Sabine Preisler-Adams,Karin Kast,Laurence Venat-Bouvet,Dominique Stoppa-Lyonnet,Georgia Chenevix-Trench,Douglas F. Easton,Robert J. Klein,Mark J. Daly,Eitan Friedman,Michael Dean,Andrew G. Clark,David Altshuler,Antonis C. Antoniou,Fergus J. Couch,Kenneth Offit,Bert Gold +114 more
TL;DR: Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey, and are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCa2 regions ofAshkenazi Jews.
Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy
Susan M. Domchek,Carol Aghajanian,Ronnie Shapira-Frommer,Rita K. Schmutzler,M. William Audeh,Michael Friedlander,Judith Balmaña,Gillian Mitchell,Gillian Mitchell,Georgeta Fried,Salomon M. Stemmer,Ayala Hubert,Ora Rosengarten,Niklas Loman,Jane Robertson,Helen Mann,Bella Kaufman +16 more
TL;DR: Following ≥3 prior lines of chemotherapy, olaparib 400mg bid (capsule form) monotherapy demonstrated notable antitumor activity in patients with gBRCA1/2m advanced ovarian cancer and no new safety signals were identified.
A counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
Bryson W. Katona,Matthew B. Yurgelun,Judy Garber,Kenneth Offit,Kenneth Offit,Susan M. Domchek,Mark E. Robson,Mark E. Robson,Zsofia K. Stadler,Zsofia K. Stadler +9 more
TL;DR: The cumulative lifetime risk (CLTR) of CRC is calculated as a multiple of the US Surveillance, Epidemiology, and End Results Program (SEER) estimates of ever developing CRC and the observed risk for selected genetic variants (CHEK2 1100delC, CHEK 2 I157K, APC*I1307K, monoallelic MUTYH) and applied the estimated odds ratio (OR) for each genetic variant to population agespecific incidence data.