Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Anne Lincoln"'
Autor:
Anne Lincoln, Sally Benton, Carolyn Piggott, Bernard V. North, Jane Rigney, Caroline Young, Philip Quirke, Peter Sasieni, Kevin J. Monahan
Publikováno v:
BMC Cancer, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background Lynch Syndrome (LS) is an inherited cancer predisposition syndrome defined by pathogenic variants in the mismatch repair (MMR) or EPCAM genes. In the United Kingdom, people with LS are advised to undergo biennial colonoscopy from
Externí odkaz:
https://doaj.org/article/a5fbf90ce3404c64a3389b319ac14bc4
Autor:
Sabine Topka, Joseph Vijai, Michael F Walsh, Lauren Jacobs, Ann Maria, Danylo Villano, Pragna Gaddam, Gang Wu, Rose B McGee, Emily Quinn, Hiroto Inaba, Christine Hartford, Ching-Hon Pui, Alberto Pappo, Michael Edmonson, Michael Y Zhang, Polina Stepensky, Peter Steinherz, Kasmintan Schrader, Anne Lincoln, James Bussel, Steve M Lipkin, Yehuda Goldgur, Mira Harit, Zsofia K Stadler, Charles Mullighan, Michael Weintraub, Akiko Shimamura, Jinghui Zhang, James R Downing, Kim E Nichols, Kenneth Offit
Publikováno v:
PLoS Genetics, Vol 11, Iss 6, p e1005262 (2015)
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in
Externí odkaz:
https://doaj.org/article/857b67bb97a141dd80ae77fd0dd250d4
Autor:
Kenneth Offit, Gad Rennert, Larry Norton, Katherine L. Nathanson, Fergus J. Couch, Mark J. Daly, Jeffrey N. Weitzel, Mark Robson, Zsofia K. Stadler, Hedy Rennert, Flavio Lejbkowicz, Liying Zhang, Michael F. Walsh, Susan L. Neuhausen, Steve M. Lipkin, Steven N. Hart, Kasmintan A. Schrader, Shai Carmi, Brandon Wenz, Sarah Kazzaz, Anne Lincoln, Pragna Gaddam, Tinu Thomas, Ann Maria, Kara N. Maxwell, Vignesh Ravichandran, Danylo Villano, Sabine Topka, Joseph Vijai
Supplementary Figure 1. Electropherogram. Supplementary Figure 2. Ramachandran plot. Supplementary Figure 3. Modeling ERCC3 R109X via CRISPR/Cas9 genome editing. Supplementary Figure 4. Haplotype analyses from the TAGC heterozygote carriers. Suppleme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08baa6836c82c06efac7bc4ec1541105
https://doi.org/10.1158/2159-8290.22531127.v1
https://doi.org/10.1158/2159-8290.22531127.v1
Publikováno v:
Posters.
IntroductionLynch syndrome (LS) is an autosomal dominant inherited disorder characterised by pathogenic variants within the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, PMS2, and a variant in EPCAM, which regulates MSH2 expression and results in an
Autor:
Anne Lincoln, Katie Snape, Terri McVeigh, John Burn, James E. East, Huw Thomas, Bianca DeSouza, Sally C Benton, Helen Hanson, Matthew D. Rutter, Kevin J. Monahan, Peter Sasieni, Fiona Lalloo
Publikováno v:
Gut
Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost 30% of the population in the UK have a family history of CRC. The quantification of an individual’s lifetime risk of gastrointestinal cancer may incorporate
Autor:
Jaclyn F. Hechtman, Martin R. Weiser, Rona Yaeger, Philip B. Paty, Efsevia Vakiani, Yukio Sonoda, Neil H. Segal, Dennis S. Chi, Larissa K. Temple, Hugh P. Skottowe, Jinru Shia, Karuna Ganesh, Ronak Shah, Andrea Cercek, Jose G. Guillem, Garrett M. Nash, Christina Tran, Nancy E. Kemeny, Anna M. Varghese, Julio Garcia Aguilar, Michael F. Berger, Leonard B. Saltz, Andrew S. Epstein, Anne Lincoln, Diane Lauren Reidy, Zsofia K. Stadler
Publikováno v:
Cancer. 123:1134-1143
BACKGROUND Ovarian metastases from colorectal cancer (OM-CRC) often are unresponsive to chemotherapy and are associated with poor survival. To the authors' knowledge, the clinicopathologic and genomic predictors of OM-CRC are poorly characterized and
Autor:
Diane Lauren Reidy, Liying Zhang, Kenneth H. Yu, Kenneth Offit, Andrew S. Epstein, Eileen M. O'Reilly, Lauren Jacobs, Mark E. Robson, Maeve A. Lowery, Anne Lincoln, Amethyst Saldia, Asad Ashraf, Rohini Rau-Murthy, Erin E. Salo-Mullen, Zsofia K. Stadler, Robert C. Kurtz, Leonard B. Saltz, David P. Kelsen
Publikováno v:
Cancer. 121:4382-4388
BACKGROUND Pancreatic adenocarcinoma (PAC) is part of several cancer predisposition syndromes; however, indications for genetic counseling/testing are not well-defined. In the current study, the authors sought to determine mutation prevalence and cha
Autor:
Aijazuddin Syed, Nisha Pradhan, Yirong Li, Meg Sheehan, José Baselga, Meera Prasad, Khedoudja Nafa, Kenneth Offit, David M. Hyman, Angela G. Arnold, Mark E. Robson, Julio Garcia-Aguilar, Magan Trottier, Liying Zhang, Karen Cadoo, Megan Harlan Fleischut, Yelena Kemel, Vijai Joseph, Jesse Galle, Marcia E. Arcila, Ahmet Zehir, Erin E. Salo-Mullen, Philip W. Kantoff, Michael Walsh, Vignesh Ravichandran, Charles L. Sawyers, Howard I. Scher, Ryma Benayed, Roy Cambria, Maeve A. Lowery, Kenneth H. Yu, David S. Klimstra, Jonathan A. Coleman, Robert J. Motzer, Diana Mandelker, Marc Ladanyi, Maura N. Dickler, David B. Solit, Semanti Mukherjee, Michael F. Berger, Leonard B. Saltz, Eileen M. O'Reilly, Anoop R. Balakrishnan, Wassim Abida, Zsofia K. Stadler, Maria I. Carlo, Ronak Shah, Anne Lincoln, Steven D. Leach, Steven M. Lipkin, Dean F. Bajorin
Importance Guidelines for cancer genetic testing based on family history may miss clinically actionable genetic changes with established implications for cancer screening or prevention. Objective To determine the proportion and potential clinical imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92685bf94c2dc462ca6abbc637ab871
https://europepmc.org/articles/PMC5611881/
https://europepmc.org/articles/PMC5611881/
Autor:
Pragna Gaddam, Flavio Lejbkowicz, Danylo J. Villano, Mark E. Robson, Zsofia K. Stadler, Liying Zhang, Hedy S. Rennert, Kenneth Offit, Ann Maria, Michael Walsh, Gad Rennert, Sarah Kazzaz, Steve M. Lipkin, Joseph Vijai, Brandon Wenz, Susan M. Domchek, Anne Lincoln, Shai Carmi, Tinu Thomas, Fergus J. Couch, Larry Norton, Jeffrey N. Weitzel, Katherine L. Nathanson, Sabine Topka, Vignesh Ravichandran, Kasmintan A. Schrader, Steven N. Hart, Susan L. Neuhausen, Kara N. Maxwell, Mark J. Daly
Known gene mutations account for approximately 50% of the hereditary risk for breast cancer. Moderate and low penetrance variants, discovered by genomic approaches, account for an as-yet-unknown proportion of the remaining heritability. A truncating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::422fe0a81e289ae29213fdb1968f86f7
https://europepmc.org/articles/PMC5614601/
https://europepmc.org/articles/PMC5614601/
Autor:
Arnold J. Markowitz, Chris A. Anrig, Rachael Goldberg, Emily Glogowski, Mark E. Robson, Margaret Sheehan, Lauren Jacobs, Megan Harlan, Marina Corines, Jada G. Hamilton, Rohini Rau-Murthy, Anne Lincoln, Erin E. Salo-Mullen, Jose G. Guillem, Zsofia K. Stadler, Christina Tran, Kate Niehaus, Kenneth Offit, Asad Ahsraf, Magan Trottier
Publikováno v:
Journal of genetic counseling. 26(2)
Few reports of educational and counseling support resources exist for Lynch syndrome (LS), a disorder requiring multi-organ cancer screening and specialized medical care throughout adult life. Here we describe the development and efficacy of two reso