Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Susan Domchek"'
Autor:
Lillian Phung, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Demetrios Ofidis, Sarah Howe, Rajia Mim, Hannah Griffin, Dominique Fetzer, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, JoEllen Weaver, Katherine L. Nathanson, Daniel J. Rader, Angela R. Bradbury
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100346- (2024)
Summary: Research participants report interest in receiving genetic research results. How best to return results remains unclear. In this randomized pilot study, we sought to assess the feasibility of returning actionable research results through a t
Externí odkaz:
https://doaj.org/article/edde831edd684ca4b063e29b4c08d9d3
Autor:
Angela Bradbury, Elisabeth Wood, Lillian Phung, Brian Egleston, Demetrios Ofidis, Rajia Mim, Sarah Howe, Lily Hoffman-Andrews, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, Joellen Weaver, Katherine Nathanson, Daniel Rader
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101794- (2024)
Externí odkaz:
https://doaj.org/article/e14c65f401684f6f80a6367b6f342409
Autor:
Brent Mabey, Elisha Hughes, Braden Probst, Holly Pederson, Timothy Simmons, Brian Morris, Brooke Hullinger, Susan Domchek, Charis Eng, Monique Gary, Jennifer Klemp, Semanti Mukherjee, Joseph Vijai, Kenneth Offit, Olufunmilayo Olopade, Sandhya Pruthi, Allison Kurian, Mark Robson, Pat Whitworth, Susanne Wagner, Jerry Lanchbury, Thomas Slavin, Alexander Gutin
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100082- (2023)
Externí odkaz:
https://doaj.org/article/32bed194eef5483cbef9262feee8f2d8
Autor:
Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
Abstract Germline variants in tumor suppressor genes (TSGs) can result in RNA mis-splicing and predisposition to cancer. However, identification of variants that impact splicing remains a challenge, contributing to a substantial proportion of patient
Externí odkaz:
https://doaj.org/article/50f2e0c212b24359a87e5f0fd59980ac
Autor:
Tara Kaufmann, Patrick Chang, Shoshana Rosenberg, Elizabeth Frank, Brian Hobbs, Lauren J. Bayne, Isoris Nivar, Brooke L. Goodspeed, Killian M. Rohn, Emily M. Kugler, Kevin Fox, Susan Domchek, Angela Bradbury, Payal Shah, Hayley Knollman, Rachel C. Jankowitz, Igor Makhlin, Amy S. Clark, Lewis A. Chodosh, Angela DeMichele, Katherine Goodfellow
Publikováno v:
Cancer Research. 83:P5-08
Background: Patients treated for early stage breast cancer (BC) have a 30% lifetime risk of developing metastatic disease. Numerous studies have demonstrated that dormant bone marrow disseminated tumor cells (DTCs) are independently associated with r
Autor:
Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Márquez, Vignesh Ravichandran, Zoe Steinsnyder, Temima Wildman, Amanda Catchings, Yelena Kemel, Semanti Mukherjee, Benjamin Fesko, Kanika Arora, Miika Mehine, Sita Dandiker, Aalin Izhar, John Petrini, Susan Domchek, Katherine L. Nathanson, Jamie Brower, Fergus Couch, Zsofia Stadler, Mark Robson, Michael Walsh, Joseph Vijai, Michael Berger, Fran Supek, Rachid Karam, Sabine Topka, Kenneth Offit
Publikováno v:
Clinical Cancer Research. 29:422-431
Purpose: To explore the role of NBN as a pan-cancer susceptibility gene. Experimental Design: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Canc
Autor:
Kenneth Offit, Sabine Topka, Rachid Karam, Fran Supek, Michael Berger, Joseph Vijai, Michael Walsh, Mark Robson, Zsofia Stadler, Fergus Couch, Jamie Brower, Katherine L. Nathanson, Susan Domchek, John Petrini, Aalin Izhar, Sita Dandiker, Miika Mehine, Kanika Arora, Benjamin Fesko, Semanti Mukherjee, Yelena Kemel, Amanda Catchings, Temima Wildman, Zoe Steinsnyder, Vignesh Ravichandran, Guillermo Palou-Márquez, Chaitanya Bandlamudi, Aliya Khurram, Sami Belhadj
Supplementary Figure S1. Germline and somatic data from The Cancer Genome Atlas (TCGA) project, representing 10,268 cancer patients with whole exome sequencing data.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692cfa22cc2afd66084d69faebdf809c
https://doi.org/10.1158/1078-0432.22489497.v1
https://doi.org/10.1158/1078-0432.22489497.v1
Autor:
Kenneth Offit, Sabine Topka, Rachid Karam, Fran Supek, Michael Berger, Joseph Vijai, Michael Walsh, Mark Robson, Zsofia Stadler, Fergus Couch, Jamie Brower, Katherine L. Nathanson, Susan Domchek, John Petrini, Aalin Izhar, Sita Dandiker, Miika Mehine, Kanika Arora, Benjamin Fesko, Semanti Mukherjee, Yelena Kemel, Amanda Catchings, Temima Wildman, Zoe Steinsnyder, Vignesh Ravichandran, Guillermo Palou-Márquez, Chaitanya Bandlamudi, Aliya Khurram, Sami Belhadj
Purpose:To explore the role of NBN as a pan-cancer susceptibility gene.Experimental Design:Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200403439bb586cbeb17c3f2103efbec
https://doi.org/10.1158/1078-0432.c.6532968
https://doi.org/10.1158/1078-0432.c.6532968
Autor:
Peter O'Dwyer, Kevin Fox, Mark Rosen, Keerthi Gogineni, Susan Domchek, Noah Goodman, Melissa Langer, David Lewis, Christopher Colameco, Paul Zhang, Michael Feldman, Priti Lal, Maryann Gallagher, Kristi Gramlich, Daniel F. Heitjan, Kay See Tan, Amy S. Clark, Angela DeMichele
Legend for Supplementary Figures 1-2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60587d77621171c5045040afa37af95c
https://doi.org/10.1158/1078-0432.22460433
https://doi.org/10.1158/1078-0432.22460433
Autor:
Peter O'Dwyer, Kevin Fox, Mark Rosen, Keerthi Gogineni, Susan Domchek, Noah Goodman, Melissa Langer, David Lewis, Christopher Colameco, Paul Zhang, Michael Feldman, Priti Lal, Maryann Gallagher, Kristi Gramlich, Daniel F. Heitjan, Kay See Tan, Amy S. Clark, Angela DeMichele
Supplemental Table 1. Biomarker Associations with Outcome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c101bfcdecf222485785a07fd0e1209
https://doi.org/10.1158/1078-0432.22460436.v1
https://doi.org/10.1158/1078-0432.22460436.v1