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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
Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers
TL;DR: The relative risks of developing breast cancer were highest for men in their 30s and 40s and decreased with increasing age, and both the relative and cumulative risks were higher for BRCA2 mutation carriers than forBRCA1 mutation carriers.
Journal ArticleDOI
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Mary B. Daly,Robert Pilarski,Matthew B. Yurgelun,Michael Berry,Saundra S. Buys,Patricia I. Dickson,Susan M. Domchek,Ahmed Elkhanany,Susan Hatters Friedman,Judy Garber,Michael Goggins,Mollie L. Hutton,Seema A. Khan,Catherine Klein,Wendy Kohlmann,Allison W. Kurian,Christine Laronga,Jennifer K. Litton,Julie S. Mak,Carolyn S. Menendez,Sofia D. Merajver,Barbara S. Norquist,Kenneth Offit,Tuya Pal,Holly J. Pederson,Gwen Reiser,Kristen M. Shannon,Kala Visvanathan,Jeffrey N. Weitzel,Myra J. Wick,Kari B. Wisinski,Mary A. Dwyer,Susan Darlow +32 more
TL;DR: These NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding criteria for high-penetrance genes associated with breast and ovarian cancer beyond BRCA1/2, pancreas screening and genesassociated with pancreatic cancer, genetic testing for the purpose of systemic therapy decision-making, and testing for people with Ashkenazi Jewish ancestry.
Journal ArticleDOI
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.
Kelly A. Metcalfe,Daphna Birenbaum-Carmeli,Jan Lubinski,Jacek Gronwald,Henry T. Lynch,Pål Møller,Parviz Ghadirian,William D. Foulkes,Jan Klijn,Eitan Friedman,Eitan Friedman,Charmaine Kim-Sing,Peter Ainsworth,B. Rosen,Susan M. Domchek,T Wagner,Nadine Tung,Siranoush Manoukian,Fergus J. Couch,Ping Sun,Steven A. Narod,M. Daly,Howard M. Saal,Kevin Sweet,Dominique Stoppa Lyonnet,A. Eisen,G. Rennen,J. McLennan,Ruth Gershoni-Baruch,Judy Garber,Shelly Cummings,J. N. Weitzel,Beth Y. Karlan,Raluca N. Kurz,Wendy McKinnon,Marie E. Wood,Dawna Gilchrist,Albert E. Chudley,Michael P. Osborne,David A. Fishman,W. S. Meschino,Edmond G. Lemire,Christine Maugard,Gordon B. Mills,Sofia D. Merajver,Daniel Rayson,J. M. Collee +46 more
TL;DR: Nearly one‐half of the women at risk for breast cancer had taken no preventive option, relying solely on screening, and there were large differences in the uptake of the different preventive options by country of residence.
Journal ArticleDOI
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
Antonis C. Antoniou,Xianshu Wang,Zachary S. Fredericksen,Lesley McGuffog,Robert F. Tarrell,Olga M. Sinilnikova,Sue Healey,Jonathan J. Morrison,Christiana Kartsonaki,Timothy G. Lesnick,Maya Ghoussaini,Daniel Barrowdale,Susan Peock,Margaret Cook,Clare Oliver,Debra Frost,Diana Eccles,D. Gareth Evans,Ros Eeles,Louise Izatt,Carol Chu,Fiona Douglas,Joan Paterson,Dominique Stoppa-Lyonnet,Claude Houdayer,Sylvie Mazoyer,Sophie Giraud,Christine Lasset,Audrey Remenieras,Olivier Caron,Agnès Hardouin,Pascaline Berthet,Frans B. L. Hogervorst,Matti A. Rookus,Agnes Jager,Ans M.W. van den Ouweland,Nicoline Hoogerbrugge,Rob B. van der Luijt,Hanne Meijers-Heijboer,Encarna B. Gomez Garcia,Peter Devilee,Maaike P.G. Vreeswijk,Jan Lubinski,Anna Jakubowska,Jacek Gronwald,Tomasz Huzarski,Tomasz Byrski,Bohdan Górski,Cezary Cybulski,Amanda B. Spurdle,Helene Holland,David E. Goldgar,Esther M. John,John L. Hopper,Melissa C. Southey,Saundra S. Buys,Mary B. Daly,Mary Beth Terry,Rita K. Schmutzler,Barbara Wappenschmidt,Christoph Engel,Alfons Meindl,Sabine Preisler-Adams,Norbert Arnold,Dieter Niederacher,Christian Sutter,Susan M. Domchek,Katherine L. Nathanson,Timothy R. Rebbeck,Joanne L. Blum,Marion Piedmonte,Gustavo C. Rodriguez,Katie Wakeley,John F. Boggess,Jack Basil,Stephanie V. Blank,Eitan Friedman,Bella Kaufman,Yael Laitman,Roni Milgrom,Irene L. Andrulis,Irene L. Andrulis,Gord Glendon,Hilmi Ozcelik,Tomas Kirchhoff,Tomas Kirchhoff,Joseph Vijai,Joseph Vijai,Mia M. Gaudet,David Altshuler,Candace Guiducci,Niklas Loman,Katja Harbst,Johanna Rantala,Hans Ehrencrona,Anne-Marie Gerdes,Mads Thomassen,Lone Sunde,Paolo Peterlongo,Siranoush Manoukian,Bernardo Bonanni,Alessandra Viel,Paolo Radice,Trinidad Caldés,Miguel de la Hoya,Christian F. Singer,Anneliese Fink-Retter,Mark H. Greene,Phuong L. Mai,Jennifer T. Loud,Lucia Guidugli,Noralane M. Lindor,Thomas Hansen,Finn Cilius Nielsen,Ignacio Blanco,Conxi Lázaro,Judy Garber,Susan J. Ramus,Simon A. Gayther,Catherine M. Phelan,Stephen Narod,Csilla Szabo,Javier Benitez,Ana Osorio,Heli Nevanlinna,Tuomas Heikkinen,Maria A. Caligo,Mary S. Beattie,Ute Hamann,Andrew K. Godwin,Marco Montagna,Cinzia Casella,Susan L. Neuhausen,Beth Y. Karlan,Nadine Tung,Amanda E. Toland,Jeffrey N. Weitzel,O. I. Olopade,Jacques Simard,Penny Soucy,Wendy S. Rubinstein,Adalgeir Arason,Gad Rennert,Nicholas G. Martin,Grant W. Montgomery,Jenny Chang-Claude,Dieter Flesch-Janys,Hiltrud Brauch,Hiltrud Brauch,Gianluca Severi,Laura Baglietto,Angela Cox,Simon S. Cross,Penelope Miron,Sue Gerty,William J. Tapper,Drakoulis Yannoukakos,George Fountzilas,Peter A. Fasching,Matthias W. Beckmann,Isabel dos Santos Silva,Julian Peto,Diether Lambrechts,Robert Paridaens,Thomas Ruediger,Asta Foersti,Robert Winqvist,Katri Pylkaes,Robert B. Diasio,Adam M. Lee,Jeanette E. Eckel-Passow,Celine M. Vachon,Fiona M. Blows,Kristy Driver,Alison M. Dunning,Alison M. Dunning,Paul D.P. Pharoah,Kenneth Offit,V. Shane Pankratz,Hakon Hakonarson,Georgia Chenevix-Trench,Douglas F. Easton,Fergus J. Couch +182 more
TL;DR: Five SNPs on 19p13 were associated with breast cancer risk and an association with estrogen receptor–positive disease in the opposite direction was identified andotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association.
Journal ArticleDOI
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study
Susan M. Domchek,Tara M. Friebel,Susan L. Neuhausen,Theresa Wagner,Gareth Evans,Claudine Isaacs,Judy Garber,Mary B. Daly,Rosalind A. Eeles,Ellen T. Matloff,Gail E. Tomlinson,Laura J. van't Veer,Henry T. Lynch,Olufunmilayo I. Olopade,Barbara L. Weber,Barbara L. Weber,Timothy R. Rebbeck +16 more
TL;DR: If confirmed, the finding that BPSO improves overall survival and cancer-specific survival in women with BRCA mutations will complement the existing knowledge of cancer-risk reduction associated with B PSO and give information to women who are considering genetic testing.