Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Katie, Snape"'
Autor:
Kelly Kohut, Kate Morton, Karen Hurley, Lesley Turner, The CanGene‐CanVar Patient Reference Panel, Caroline Dale, Susan Eastbrook, Rochelle Gold, Kate Henwood, Sonia Patton, Reshma Punjabi, Helen White, Charlene Young, Julie Young, Elizabeth Bancroft, Lily Barnett, Sarah Cable, Gaya Connolly, Beth Coad, Andrea Forman, Helen Hanson, Grace Kavanaugh, Katherine Sahan, Katie Snape, Bethany Torr, Rosalind Way, Elizabeth Winchester, Alice Youngs, The International Lynch Decision Aid Stakeholder Panel, Diana Eccles, Claire Foster
Publikováno v:
Health Expectations, Vol 27, Iss 1, Pp n/a-n/a (2024)
Abstract Introduction Patient decision aids (PtDA) complement shared decision‐making with healthcare professionals and improve decision quality. However, PtDA often lack theoretical underpinning. We are codesigning a PtDA to help people with increa
Externí odkaz:
https://doaj.org/article/5d85ab691f14464786d07d0d55ab91d4
Autor:
Beth Coad, Katherine Joekes, Alicja Rudnicka, Amy Frost, Mark Robert Openshaw, Katrina Tatton-Brown, Katie Snape
Publikováno v:
BMC Medical Education, Vol 23, Iss 1, Pp 1-12 (2023)
Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic var
Externí odkaz:
https://doaj.org/article/508b698479e4471e875fc6b598fce479
Autor:
Karin Kast, Esther M. John, John L. Hopper, Nadine Andrieu, Catherine Noguès, Emmanuelle Mouret-Fourme, Christine Lasset, Jean-Pierre Fricker, Pascaline Berthet, Véronique Mari, Lucie Salle, Marjanka K. Schmidt, Margreet G. E. M. Ausems, Encarnacion B. Gomez Garcia, Irma van de Beek, Marijke R. Wevers, D. Gareth Evans, Marc Tischkowitz, Fiona Lalloo, Jackie Cook, Louise Izatt, Vishakha Tripathi, Katie Snape, Hannah Musgrave, Saba Sharif, Jennie Murray, EMBRACE Collaborators, Sarah V. Colonna, Irene L. Andrulis, Mary B. Daly, Melissa C. Southey, Miguel de la Hoya, Ana Osorio, Lenka Foretova, Dita Berkova, Anne-Marie Gerdes, Edith Olah, Anna Jakubowska, Christian F. Singer, Yen Tan, Annelie Augustinsson, Johanna Rantala, Jacques Simard, Rita K. Schmutzler, Roger L. Milne, Kelly-Anne Phillips, Mary Beth Terry, David Goldgar, Flora E. van Leeuwen, Thea M. Mooij, Antonis C. Antoniou, Douglas F. Easton, Matti A. Rookus, Christoph Engel
Publikováno v:
Breast Cancer Research, Vol 25, Iss 1, Pp 1-13 (2023)
Abstract Introduction Height, body mass index (BMI), and weight gain are associated with breast cancer risk in the general population. It is unclear whether these associations also exist for carriers of pathogenic variants in the BRCA1 or BRCA2 genes
Externí odkaz:
https://doaj.org/article/defb634c771140469f2099e850871259
Autor:
Abdul Rahman Badran, Alice Youngs, Andrea Forman, Marisa Elms, Lai-Lai Chang, Fiyaz Lebbe, Adam Reekie, John Short, Min Theik Hlaing, Emma Watts, Deborah Hipps, Katie Snape
Publikováno v:
BJGP Open, Vol 7, Iss 4 (2023)
Background: Family history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention, and Early Detection (SPED). Family History Questionnaire Service (FHQS) is a resource-efficient patient-facing o
Externí odkaz:
https://doaj.org/article/47f971168d8f464d92da66ec192d7c22
Autor:
Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Sami Belhadj, Lieke Berger, Marinus J. Blok, Susanne E. Boonen, Julika Borde, Angela R. Bradbury, Joan Brunet, Saundra S. Buys, Maria A. Caligo, Ian Campbell, Wendy K. Chung, Kathleen B. M. Claes, GEMO Study Collaborators, EMBRACE Collaborators, Marie-Agnès Collonge-Rame, Jackie Cook, Casey Cosgrove, Fergus J. Couch, Mary B. Daly, Sita Dandiker, Rosemarie Davidson, Miguel de la Hoya, Robin de Putter, Capucine Delnatte, Mallika Dhawan, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Alan Donaldson, Jacqueline Eason, Douglas F. Easton, Hans Ehrencrona, Christoph Engel, D. Gareth Evans, Ulrike Faust, Lidia Feliubadaló, Florentia Fostira, Eitan Friedman, Megan Frone, Debra Frost, Judy Garber, Simon A. Gayther, Andrea Gehrig, Paul Gesta, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Eric Hahnen, Christopher R. Hake, Ute Hamann, Thomas V. O. Hansen, Jan Hauke, Julia Hentschel, Natalie Herold, Ellen Honisch, Peter J. Hulick, Evgeny N. Imyanitov, SWE-BRCA Investigators, kConFab Investigators, HEBON Investigators, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Zoe Kemp, Judy Kirk, Irene Konstantopoulou, Marco Koudijs, Ava Kwong, Yael Laitman, Fiona Lalloo, Christine Lasset, Charlotte Lautrup, Conxi Lazaro, Clémentine Legrand, Goska Leslie, Fabienne Lesueur, Phuong L. Mai, Siranoush Manoukian, Véronique Mari, John W. M. Martens, Lesley McGuffog, Noura Mebirouk, Alfons Meindl, Austin Miller, Marco Montagna, Lidia Moserle, Emmanuelle Mouret-Fourme, Hannah Musgrave, Sophie Nambot, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Joanne Ngeow Yuen Yie, Tu Nguyen-Dumont, Liene Nikitina-Zake, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Ana Peixoto, Pedro Perez-Segura, Paolo Peterlongo, Timea Pocza, Paolo Radice, Juliane Ramser, Johanna Rantala, Gustavo C. Rodriguez, Karina Rønlund, Efraim H. Rosenberg, Maria Rossing, Rita K. Schmutzler, Payal D. Shah, Saba Sharif, Priyanka Sharma, Lucy E. Side, Jacques Simard, Christian F. Singer, Katie Snape, Doris Steinemann, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Mads Thomassen, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Alison H. Trainer, Vishakha Tripathi, Nadine Tung, Klaartje van Engelen, Elizabeth J. van Rensburg, Ana Vega, Alessandra Viel, Lisa Walker, Jeffrey N. Weitzel, Marike R. Wevers, Georgia Chenevix-Trench, Amanda B. Spurdle, Antonis C. Antoniou, Logan C. Walker
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.
Externí odkaz:
https://doaj.org/article/2008d12983b5437282b0bdff8c8a6bb0
Autor:
Andrew Clark, Sally Thomas, Angela Hamblin, Polly Talley, Austin Kulasekararaj, Jacob Grinfeld, Beverley Speight, Katie Snape, Terri P. McVeigh, John A. Snowden
Publikováno v:
British Journal of Haematology. 201:35-44
Autor:
Rippie K Tutika, James A Bennett, Jean Abraham, Katie Snape, Katrina Tatton-Brown, Zoe Kemp, Ellen Copson, Mark R Openshaw
Publikováno v:
Clinical Medicine. 23:9-15
Autor:
Avgi, Andreou, Bryndis, Yngvadottir, Laia, Bassaganyas, Graeme, Clark, Ezequiel, Martin, James, Whitworth, Alex J, Cornish, Richard S, Houlston, Philip, Rich, Catherine, Egan, Shirley V, Hodgson, Anne Y, Warren, Katie, Snape, Eamonn R, Maher
Publikováno v:
Human Molecular Genetics. 31:2728-2737
Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the E3 ubiquitin ligase complex
Autor:
Elise Ruark, Anthony Renwick, Matthew Clarke, Katie Snape, Emma Ramsay, Anna Elliott, Sandra Hanks, Ann Strydom, Sheila Seal, Nazneen Rahman
Publikováno v:
F1000Research, Vol 5 (2018)
To provide a useful community resource for orthogonal assessment of NGS analysis software, we present the ICR142 NGS validation series. The dataset includes high-quality exome sequence data from 142 samples together with Sanger sequence data at 704 s
Externí odkaz:
https://doaj.org/article/1463d4af0f4148db92505f1d746737c2
Publikováno v:
The Application of Clinical Genetics, Vol Volume 14, Pp 255-266 (2021)
The Application of Clinical Genetics
The Application of Clinical Genetics
Bradley King,1 Jana McHugh,2 Katie Snape3 1Institute of Medical and Biomedical Education, St. George’s, University of London, London, UK; 2Department of Oncogenomics, Institute of Cancer Research, London, UK; 3Department of Clinical Genetics, St Ge