Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Cathryn Koptiuch"'
Autor:
Ryan Mooney, Yelena P. Wu, Kelsey Kehoe, Molly Volkmar, Wendy Kohlmann, Cathryn Koptiuch, Kimberly A Kaphingst
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-9 (2023)
Abstract Background Lynch Syndrome is among the most common hereditary cancer syndromes and requires ongoing cancer surveillance, repeated screenings and potential risk-reducing surgeries. Despite the importance of continued surveillance, there is li
Externí odkaz:
https://doaj.org/article/75cb66c2b6be45ffa569b4ceb457307a
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:
Erin L. Young, Bryony A. Thompson, Deborah W. Neklason, Matthew A. Firpo, Theresa Werner, Russell Bell, Justin Berger, Alison Fraser, Amanda Gammon, Cathryn Koptiuch, Wendy K. Kohlmann, Leigh Neumayer, David E. Goldgar, Sean J. Mulvihill, Lisa A. Cannon-Albright, Sean V. Tavtigian
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-9 (2018)
Abstract Background Genes associated with hereditary breast and ovarian cancer (HBOC) and colorectal cancer (CRC) predisposition have been shown to play a role in pancreatic cancer susceptibility. Growing evidence suggests that pancreatic cancer may
Externí odkaz:
https://doaj.org/article/d5238a76a3404ba5aa2923acf88dd568
Publikováno v:
JCO Precis Oncol
PURPOSE National Comprehensive Cancer Network guidelines for germline genetic testing have included pancreatic cancer in the context of additional family cancer history for many years but this was not recommended for patients with pancreatic ductal a
Autor:
Priyanka Kanth, Zhe Yu, Megan B. Keener, Cathryn Koptiuch, Wendy K. Kohlmann, Deborah W. Neklason, Michelle Westover, Karen Curtin
Publikováno v:
The American journal of gastroenterology. 117(2)
Patients with serrated polyposis syndrome (SPS) and their first-degree relatives (FDRs) have increased colorectal cancer (CRC) risk. Patients with sporadic sessile serrated lesion (SSL) have risk for progression to CRC. Yet familial risks of common e
Autor:
Meagan Farmer, Brandon Smith, Kara N. Maxwell, Brigette Tippin-Davis, Julia Burdette, Danielle McKenna, Ashley A. Cass, Sinead Charpentier, Sitao Wu, Emily Dalton, Melissa Parra, Susanne Fox, Aaron Elliott, Holly LaDuca, Cathryn Koptiuch, Susan M. Domchek, Elizabeth Hoodfar, Robert Pilarski, Dong Xu, Khateriaa Pyrtel, Kara J. Milliron, Michele Fennessy, Gayle Patel, Lily Hoang, Morgan M Depas, Tina Pesaran, Rachid Karam, Meredith Seidel, Ann Bunnell, Huy Gia Vuong, Deborah Wham, Bing Li, Ragene Rivera, Jennie Vagher, Nichole A. Morman, Aarani Arulmoli, Sara Pirzadeh-Miller, Hsiao-Mei Lu, Jessica Profato, Joy Rae-Radecki Crandall, Elizabeth C. Chao, Ruth Baxter, Shraddha Gaonkar, Ginger Haynes, Amanda Ganzak, Deepika Nathan, Jennifer L. Geurts, Blair R. Conner, Tyler Landrith, Rebekah Krukenberg, John J. Lee, Christopher Heinlen, Bhuvan Molparia
Publikováno v:
npj Precision Oncology, Vol 4, Iss 1, Pp 1-9 (2020)
NPJ Precision Oncology
NPJ Precision Oncology
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 patients with su
Autor:
Deborah W. Neklason, Yao Yu, Cathryn Koptiuch, Wendy Kohlmann, Ryan Mooney, Bryony A. Thompson, Bing Jian Feng, Sara Johnson, Sean V. Tavtigian, Craig Teerlink, Angela K. Snow, Chad D. Huff, Lisa A. Cannon-Albright
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c255fe010b1b9b6e7f172e0c6c69497
https://doi.org/10.1111/cge.13757/v2/response1
https://doi.org/10.1111/cge.13757/v2/response1
Autor:
Nirav Thosani, Jeffrey Lee, Terry L. Jue, Cathryn Koptiuch, James Buxbaum, Mandeep S. Sawhney, Joanna K. Law, N. Jewel Samadder, Sachin Wani, Julie Yang, Bashar J. Qumseya, Suryakanth R. Gurudu, Syed M. Abbas Fehmi, Mouen A. Khashab, Laith H. Jamil, Deepak Agrawal, Douglas S. Fishman, Mariam Naveed
Publikováno v:
Gastrointestinal endoscopy. 91(5)
Familial adenomatous polyposis (FAP) syndrome is a complex entity, which includes FAP, attenuated FAP, and MUTYH-associated polyposis. These patients are at significant risk for colorectal cancer and carry additional risks for extracolonic malignanci
Autor:
Yao Yu, Bryony A. Thompson, Sara Johnson, Sean V. Tavtigian, Deborah W. Neklason, Craig C. Teerlink, Bing Jian Feng, Angela K. Snow, Chad D. Huff, Cathryn Koptiuch, Wendy Kohlmann, Ryan Mooney, Lisa A. Cannon-Albright
Publikováno v:
Clinical genetics. 97(6)
Colorectal cancer (CRC) has a large hereditary component, which is only partially explained by known genetic causes. Recently, variants in ribosomal protein S20 (RPS20, [OMIM: 603682]) were identified in a family with familial CRC type X and in a CRC
Autor:
Juan F. Gallegos-Orozco, Kenneth M. Boucher, Michael Charlton, Kathryn R. Byrne, N. Jewel Samadder, Cathryn Koptiuch, Heidi A. Hanson, Karen Curtin, Randall W. Burt, Ken R. Smith, Jathine Wong
Publikováno v:
Digestive Diseases and Sciences. 61:3627-3632
Biliary tract cancers (BTC) including, cholangiocarcinoma (CC) and gallbladder cancer (GBC), are rare and highly fatal malignancies. The etiology and inherited susceptibility of both malignancies are poorly understood. We quantified the risk of BTC i