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Susan M. Domchek

University of Pennsylvania

104H-index
1.0KPaper Count
4.9WCitation Count
Published Papers 266
Publication Date
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Prevalence of Helicobacter pylori Exposure and Risk Factors Among BRCA1 and BRCA2 Carriers
errInternational Journal of Cancer
IF4.7
err2026-08-15
err0
errOAAI
errKole H. Buckley; Yuhan Zhu; Kevin Dinh; Ryan Hausler; Rohan Gala; Sophia R. Spiegel; Rosella Delgado; Daniel G. Clay; Gregory M. Kelly; Jamie Brower; Susan M. Domchek; Kara N. Maxwell; Bryson W. Katona
errShare
errSave
The Impact of Breast Cancer Polygenic Risk Score Disclosure on Decisional Conflict Around Risk-Reducing Mastectomy in Women with Pathogenic BRCA1/2 Variants
errGenetics in Medicine
IF6.2
err2026-05-21
err0
errOAAI
errGiulia Ongaro; Caroline Salafia; Rania Sheikh; Elizabeth Schofield; Dana Farengo Clark; Jessica Ebrahimzadeh; Anu Chittenden; Jill E. Stopfer; Jamie Brower; Heather Symecko; Hannah Ovadia; Alexander Husband; Hadley Barr; Semanti Mukherjee; Jennifer L. Hay; Zsofia K. Stadler; Kenneth Offit; Judy E. Garber; Susan M. Domchek; Mark E. Robson
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errSave
Invest where impact begins: recommendations from Breast Cancer Research Foundation Early Career Investigator Working Group (Part 1 of 2)
errnpj Breast Cancer
IF7.6
err2026-05-01
err0
PREAI
errAbdou, Yara; Rozenblit, Mariya; Trapani, Dario; Zerdes, Ioannis; Boudreau, Erin; Zhou, Yang; Adam, Virginie; Barrios, Carlos; Bousrih, Chayma; Branch, Vernal; Carey, Lisa A.; Cameron, David; Chen, Samantha; Chua, Boon H.; Davidson, Nancy E.; Domchek, Susan M.; El-Abed, Sarra; El-Ashry, Dorraya; Flowers, Margaret; Foldi, Julia; Garber, Judy; Goulioti, Theodora; Hodgdon, Christine; Hung, Jessica L. C.; Klar, Natalie; Norton, Larry; Parajuli, Ritesh; Piccart, Martine; Pollastro, Teri; Santa-Maria, Cesar A.; Schumacher-Wulf, Eva; Stecklein, Shane R.; Thulin, Anna; Tovey, Holly; Winer, Eric; Wolff, Antonio C.; Lin, Nancy U.; O'Reilly, Seamus
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errSave
Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification
errNature Communications
IF15.7
err2026-04-09
err0
errOAAI
errChunling Hu; Sounak Sahu; Wenan Chen; Melissa Galloux; Marcy E. Richardson; Megan F. Bishop; Rachid Karam; Tina Pesaran; Jie Na; Huaizhi Huang; Jeffrey N. Weitzel; Katherine N. Nathanson; Siddhartha Yadav; Nicholas J. Boddicker; Susan M. Domchek; Alvaro N. Monteiro; Edwin S. Iversen; Shyam K. Sharan; Fergus J. Couch
errShare
errSave
Homologous recombination deficiency and hemizygosity drive resistance in breast cancer
errNature
IF48.5
err2026-03-04
err0
errOAAI
errAnton Safonov; Minna Lee; David N. Brown; Luca Boscolo Bielo; Miika Mehine; Chaitanya Bandlamudi; Ben O’Leary; Hong Shao; Laia Vicente; Daniel Muldoon; Allen Zhu; Susana Ros; Antonio Marra; Pier Selenica; Ivan Bieche; Bradley Wubbenhorst; Emanuela Ferraro; Laura Courtois; Rania El Botty; Mehnaj Ahmed; Enrico Moiso; Julia Ah-Reum An; Mark T. A. Donoghue; Marie Will; Fresia Pareja; Emily Nizialek; Natalia Lukashchuk; Eleni Sofianopoulou; Yuan Liu; Xin Huang; Colombe Chappey; Anna D. Staniszewska; Dara Ross; Diana Mandelker; Marc Ladanyi; Nikolaus Schultz; Michael F. Berger; Maurizio Scaltriti; Jorge S. Reis-Filho; Bob T. Li; Kenneth Offit; Larry Norton; Ronglai Shen; Kara N. Maxwell; Fergus Couch; Susan M. Domchek; Elisabetta Marangoni; Sohrab Shah; Mark R. Albertella; Violeta Serra; Britta Weigelt; David B. Solit; Katherine L. Nathanson; Mark E. Robson; Nicholas C. Turner; Sarat Chandarlapaty; Pedram Razavi
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Sexual Function, Activity and Distress 24 Months After Surgical Menopause: What Happens After Menopause (WHAM)—A Prospective Controlled Study
errbjog: an international journal of obstetrics & gynaecology
IF0
err2026-01-22
err0
errOAAI
errMartha Hickey; Trevor Tejada-Berges; Susan M. Domchek; Efrosinia O. Krejany; Alison Brand; Peixuan Li; Sabine Braat; Sheryl Kingsberg
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errSave
An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-11-01
err0
errOAAI
errCocchella, Giorgio; Phung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Brown, Sarah; Ofidis, Demetrios; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson W.; Kallish, Staci; Sirugo, Giorgio; Weaver, JoEllen; Nathanson, Katherine L.; Rader, Daniel J.; Bradbury, Angela R.
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errSave
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
errThe American Journal of Human Genetics
IF0
err2025-10-30
err0
PREAI
errSharon E. Johnatty; Emma Tudini; Michael T. Parsons; Kyriaki Michailidou; Maria Zanti; Daffodil M. Canson; Aimee L. Davidson; Tamar Berger; Rasim Ozgur Rosti; Christian P. Kratz; Reinhard Kalb; Lisa J. McReynolds; Neelam Giri; Marcy E. Richardson; Tina Pesaran; Jordi Surrallés; Roser Pujol; Babu Rao Vundinti; Merin George; Kara N. Maxwell; Kate Nathanson; Susan Domchek; Moisés Ó. Fiesco-Roa; Sara Frias; Benilde García-de-Teresa; Marjolijn Jongmans; Seema Lalani; Merel Maiburg; Katrina Prescott; Rachel Robinson; Sulekha Rajagopalan; Lot Snijders Blok; Suzanna E.L. Temple; Kathy Tucker; Arleen D. Auerbach; Maria I. Cancio; Jennifer A. Kennedy; Margaret L. MacMillan; Rebecca Tryon; John E. Wagner; Michael Walsh; Nicholas J. Boddicker; Chunling Hu; Jeffrey N. Weitzel; Alexander J.M. Dingemans; Johanna Hadler; Nitsan Rotenberg; Lobna Ramadane-Morchadi; Miguel de la Hoya; Paul James; Thomas Van Overeem Hansen; Maaike P.G. Vreeswijk; Logan C. Walker; Shyam K. Sharan; Douglas F. Easton; Fergus Couch; Agata Smogorzewska; Adam Nelson; Joanne Ngeow; Marc Tischkowitz; Encarnacion Gomez-Garcia; Amanda B. Spurdle
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errSave
The MyCancerGene study: a hybrid type 1 effectiveness-implementation randomized study comparing a patient-centered digital genetic health portal to usual care after receipt of cancer genetic testing
errBMC Cancer
IF3.4
err2025-10-26
err0
errOAAI
errDaniel Chavez-Yenter; Dominique Fetzer; Brian Egleston; Susan Domchek; Linda Fleisher; Lynne I. Wagner; Kuang-Yi Wen; Kelsey Karpink; Lauren Gutstein; Shelby Posen; Enida Selmani; Briana McLeod; Arravinth Anantharajah; Sarah Brown; Cara Cacioppo; Jacqueline Cappadocia; Jessica E. Ebrahimzadeh; Dana Falcone; Sarah Howe; Claire Langer; Beth McCarthy-Wood; Michelle Weinberg; Angela R. Bradbury
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errSave
What Happens After Menopause (WHAM)? A Progress Report of a Prospective Controlled Study of Women After Pre-Menopausal Risk-Reducing Bilateral Salpingo-Oophorectomy
errbjog an international journal of obstetrics and gynaecology
IF0
err2025-07-23
err0
errOAAI
errSarah A. L. Price; Pauline M. Maki; Samar R. El Khoudary; Alison Brand; Rakibul M. Islam; Susan M. Domchek; Hadine Joffe; Gita D. Mishra; Katrina M. Moss; Fiona C. Baker; Sabine Braat; John D. Wark; Martha Hickey
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errSave
Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions
errNature Communications
IF15.7
err2025-07-16
err0
errOAAI
errHayley L. Rein; Yashpal Rawal; Anna L. Palovcak-Lightbourn; Gayatri S. Ganesan; Phoebe S. Parker; Reagan Russell; Kristie E. Darrah; Mohammad Afsar; Meghan R. Sullivan; Sarah R. Hengel; Marc R. Radke; Patricia L. Opresko; Judith L. Yanowitz; Eric C. Greene; Jung-Min Lee; Susan M. Domchek; Elizabeth M. Swisher; Shaun K. Olsen; Patrick Sung; Kara A. Bernstein
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errSave
Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing
errANNALS OF ONCOLOGY
IF65.4
err2024-10-01
err2
errOAAI
errRowlands, C. F.; Allen, S.; Balmana, J.; Domchek, S. M.; Evans, D. G.; Hanson, H.; Hoogerbrugge, N.; James, P. A.; Nathanson, K. L.; Robson, M.; Tischkowitz, M.; Foulkes, W. D.; Turnbull, C.
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errSave
Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2024-10-01
err0
errOAAI
errPhung, Lillian; Wood, Elisabeth; Egleston, Brian; Hoffman-Andrews, Lily; Ofidis, Demetrios; Howe, Sarah; Mim, Rajia; Griffin, Hannah; Fetzer, Dominique; Owens, Anjali; Domchek, Susan; Pyeritz, Reed; Katona, Bryson; Kallish, Staci; Sirugo, Giorgio; Weaver, Joellen; Nathanson, Katherine L.; Rader, Daniel J.; Bradbury, Angela R.
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errSave
LODESTAR: A Single Arm Phase II Study of Rucaparib in Solid Tumors with Pathogenic Germline or Somatic Variants in Homologous Recombination Repair (HRR) Genes
errCANCER RESEARCH
IF16.6
err2024-09-15
err0
PREAI
errAnbil, Sriram; Seewald, Nicholas J.; Lin, Kevin; Craib, Marcia; Connor, Christy; Giordano, Heidi; McLachlan, Karen; Kwan, Tanya; Maloney, Lara; Tukachinsky, Hanna; Schrock, Alexa; Wang, Shuoguo; Sokol, Ethan; Decker, Brennan; Nathanson, Katherine; Domchek, Susan; Reiss, Kim
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errSave
Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk
errCANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
IF3.4
err2024-09-11
err0
PREAI
errKalia, Sarah S.; Boddicker, Nicholas J.; Yadav, Siddhartha; Huang, Hongyan; Na, Jie; Hu, Chunling; Ambrosone, Christine B.; Yao, Song; Haiman, Christopher A.; Chen, Fei; John, Esther M.; Kurian, Allison W.; Guo, Boya; Lindstrom, Sara; Auer, Paul; Lacey, James V.; Neuhausen, Susan L.; Martinez, Maria Elena; Sandler, Dale P.; O'Brien, Katie M.; Taylor, Jack A.; Teras, Lauren R.; Hodge, James M.; Lori, Adriana; Bodelon, Clara; Trentham-Dietz, Amy; Burnside, Elizabeth S.; Vachon, Celine M.; Winham, Stacey J.; Goldgar, David E.; Domchek, Susan M.; Nathanson, Katherine L.; Weitzel, Jeffrey N.; Couch, Fergus J.; Kraft, Peter
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errSave
Twenty-one gene recurrence scores in individuals with breast cancer associated with PALB2 germline pathogenic variants
errCANCER RESEARCH
IF16.6
err2024-05-02
err0
PREAI
errShah, Payal; Yadav, Siddhartha; Brower, Jamie; Hamilton, Jada; Simmons, Erica; Garber, Judy; Offit, Kenneth; Robson, Mark; Couch, Fergus; Domchek, Susan
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errSave
Background parenchymal enhancement (BPE) on breast magnetic resonance imaging as a biomarker of breast cancer risk among BRCA1/2 carriers
errCANCER RESEARCH
IF16.6
err2024-05-02
err0
PREAI
errMcCarthy, Anne Marie; Nguyen, Alex Anh-Tu; Mankowski, Walter; Cohen, Eric; Ehsan, Sarah; Gillette, Rhonda; Pantalone, Lauren; Weinstein, Susan; Conant, Emily; Domchek, Susan; Kontos, Despina
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errSave
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Pathogenic Variants in BRCA1 and BRCA2
errCANCER RESEARCH
IF16.6
err2024-05-02
err0
PREAI
errPhillips, Kelly-Anne; Kotsopoulos, Joanne; Domchek, Susan; Chamberlain, James; Bassett, Julie; Aeilts, Amber; Andrulis, Irene; Buys, Saundra; Cui, Wanda; Daly, Mary; Eisen, Andrea; Foulkes, William; Friedlander, Michael; Gronwald, Jacek; Hopper, John; John, Esther; Karlan, Beth; Kim, Raymond; Lubinski, Jan; Metcalfe, Kelly; Nathanson, Katherine; Singer, Christian F.; Symecko, Heather; Tung, Nadine; Narod, Steven; Terry, Mary Beth; Milne, Roger
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Efficacy and safety of ceralasertib in the PLANETTE study in patients (pts) with ATM-altered advanced solid tumors (ASTs) or metastatic castration-resistant prostate cancer (mCRPC)
errCANCER RESEARCH
IF16.6
err2024-04-05
err0
PREAI
errAggarwal, Rahul; Italiano, Antoine; Domchek, Susan; Goodman, Oscar; Postel-Vinay, Sophie; Garcia-Donas, Jesus; Dorff, Tanya; Reichert, Zachery; Cassier, Philippe; Shore, Neal; Marshall, Catherine; Parr, Graeme; Irurzun-Arana, Itziar; Shah, Neel; Lukashchuk, Natalia; Murina, Olga; Slade, Daniel; Loembe, Bienvenu; Dean, Emma; Sanai, Elhan; Abida, Wassim
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errSave
Advancing Cancer Interception
errCANCER DISCOVERY
IF33.3
err2024-04-04
err5
errOAAI
errDomchek, Susan M.; Vonderheide, Robert H.
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Research Directions

No research directions
Co-authors
Cooperation Journals
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Hermann Brenner
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B
Børge G. Nordestgaard
H-index: 192 · Papers: 1.8K
G
Graham G. Giles
H-index: 164 · Papers: 2.4K
N
Nancy J. Cox
H-index: 147 · Papers: 1.1K
L
Lambertus A. Kiemeney
H-index: 142 · Papers: 1.2K
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