Výsledky vyhledávání - "DNA Mismatch Repair/genetics"

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Autor: Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles, Lisa Adams, Julian Adlard, Rosa Alfonso, Saira Ali, Angela Andrew, Luís Araújo, Nazya Azam, Darran Ball, Queenstone Barker, Alon Basevitch, Barbara Benton, Cheryl Berlin, Nicola Bermingham, Leah Biller, Angela Bloss, Matilda Bradford, Nicola Bradshaw, Amy Branson, Charles Brendler, Maria Brennan, Barbara Bulman, Lucy Burgess, Declan Cahill, Alice Callard, Nuria Calvo Verges, Marta Cardoso, Vanda Carter, Mario Catanzaro, Anthony Chamberlain, Cyril Chapman, Michael Chong, Caroline Clark, Virginia Clowes, Lyn Cogley, Trevor Cole, Cecilia Compton, Tom Conner, Sandra Cookson, Philip Cornford, Philandra Costello, Laura Coulier, Michaela Davies, Christopher Dechet, Bianca DeSouza, Gemma Devlin, Fiona Douglas, Emma Douglas, Darshna Dudakia, Alexis Duncan, Natalie Ellery, Sarah Everest, Sue Freemantle, Mark Frydenberg, Debbie Fuller, Camila Gabriel, Madeline Gale, Lynda Garcia, Simona Gay, Elena Genova, Angela George, Demetra Georgiou, Alexandra Gisbert, Margaret Gleeson, Wayne Glover, Vincent Gnanapragasam, Sally Goff, David Goldgar, Nuno Gonçalves, Selina Goodman, Jennifer Gorrie, Hannah Gott, Anna Grant, Catherine Gray, Julie Griffiths, Karin Gupwell, Jana Gurasashvili, Eldbjørg Hanslien, Sigurdis Haraldsdottir, Rachel Hart, Catherine Hartigan, Lara Hawkes, Tricia Heaton, Alex Henderson, Rui Henrique, Kathrine Hilario, Kathryn Hill, Peter Hulick, Clare Hunt, Melanie Hutchings, Rita Ibitoye, Thomas Inglehearn, Joanna Ireland, Farah Islam, Siti Ismail, Chris Jacobs, Denzil James, Sharon Jenkins, Irene Jobson, Anne Johnstone, Oliver Jones, Sagi Josefsberg Ben-Yehoshua, Beckie Kaemba, Karen Kaul, Zoe Kemp, Netty Kinsella, Margaret Klehm, Roger Kockelbergh, Kelly Kohut, Monika Kosicka-Slawinska, Anjana Kulkarni, Pardeep Kumar, Jimmy Lam, Mandy LeButt, Dan Leibovici, Ramona Lim, Lauren Limb, Claire Lomas, Mark Longmuir, Consol López, Tiziana Magnani, Sofia Maia, Jessica Maiden, Alison Male, Merrie Manalo, Phoebe Martin, Donna McBride, Michael McGuire, Romayne McMahon, Claire McNally, Terri McVeigh, Ehud Melzer, Mark Mencias, Catherine Mercer, Gillian Mitchell, Josefina Mora, Catherine Morton, Cathryn Moss, Morgan Murphy, Declan Murphy, Shumi Mzazi, Maria Nadolski, Anna Newlin, Pedro Nogueira, Rachael O'Keefe, Karen O'Toole, Shona O'Connell, Chris Ogden, Linda Okoth, Jorge Oliveira, Edgar Paez, Joan Palou, Linda Park, Nafisa Patel, João Paulo Souto, Allison Pearce, Ana Peixoto, Kimberley Perez, Lara Petelin, Gabriella Pichert, Charlotte Poile, Alison Potter, Nadia Preitner, Helen Purnell, Ellen Quinn, Paolo Radice, Brigette Rankin, Katie Rees, Caroline Renton, Kate Richardson, Peter Risby, Jason Rogers, Maggie Ruderman, April Ruiz, Anaar Sajoo, Natale Salvatore, Victoria Sands, Francesco Sanguedolce, Ayisha Sattar, Kathryn Saunders, Lyn Schofield, Rodney Scott, Anne Searle, Ravinder Sehra, Christina Selkirk, Kylie Shackleton, Sue Shanley, Adam Shaw, Daniel Shevrin, Hannah Shipman, Zahirah Sidat, Kas Siguake, Kate Simon, Courtney Smyth, Lesley Snadden, Nita Solanky, Joyce Solomons, Margherita Sorrentino, Barbara Stayner, Robert Stephenson, Elena Stoffel, Maggie Thomas, Alan Thompson, Lizzie Tidey, Marc Tischkowitz, Audrey Torokwa, Sharron Townshend, Katy Treherne, Karen Tricker, Quoc-Dien Trinh, Vishakha Tripathi, Clare Turnbull, Riccardo Valdagni, Nicholas Van As, Vickie Venne, Lizzie Verdon, Marco Vitellaro, Kristen Vogel, Lisa Walker, Amy Watford, Cathy Watt, Ilana Weintroub, Shelly Weiss, Scott Weissman, Michelle Weston, Jennifer Wiggins, Gillian Wise, Christopher Woodhouse, Pembe Yesildag, Alice Youngs, Matthew Yurgelun, Fabiana Zollo

Publikováno v: Bancroft, EK, Page, EC, Brook, MN, Thomas, S, Taylor, N, Pope, J, McHugh, J, Jones, AB, Karlsson, Q, Merson, S, Ong, KR, Hoffman, J, Huber, C, Maehle, L, Eeles, RA & Evans, D G 2021, ' A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. ', The Lancet. Oncology, vol. 22, no. 11, pp. 1618-1631 . https://doi.org/10.1016/S1470-2045(21)00522-2
The Lancet. Oncology, 22(11), 1618-1631. Lancet Publishing Group
LANCET ONCOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
The Lancet. Oncology

Funder: Victorian Cancer Agency
Funder: NIHR Manchester Biomedical Research Centre
Funder: Cancer Research UK
Funder: Cancer Council Tasmania
Funder: Instituto de Salud Carlos III
Funder: Cancer Australia
Funder: NIHR Ox

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47cfb04c18b3df43fe6648bcca6209b5
https://doi.org/10.1016/S1470-2045(21)00522-2

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The proportion of endometrial cancers associated with Lynch syndrome:a systematic review of the literature and meta-analysis

Autor: Ryan, N A J, Glaire, M A, Blake, D, Cabrera-Dandy, M, Evans, D G, Crosbie, E J

Publikováno v: Ryan, N A J, Glaire, M A, Blake, D, Cabrera-Dandy, M, Evans, D G & Crosbie, E J 2019, ' The proportion of endometrial cancers associated with Lynch syndrome : a systematic review of the literature and meta-analysis ', Genetics in Medicine, vol. 21, no. 10, pp. 2167-2180 . https://doi.org/10.1038/s41436-019-0536-8

PURPOSE: Endometrial cancer (EC) is often the sentinel cancer in women with Lynch syndrome (LS). However, efforts to implement universal LS screening in EC patients have been hampered by a lack of evidence detailing the proportion of EC patients that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2642::e4b289817c47360893d9c9d27224e08a
https://research-information.bris.ac.uk/ws/files/253697845/s41436_019_0536_8.pdf

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Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting

Autor: D. Gareth Evans, Neil A J Ryan, Chris Hyde, Emma J Crosbie, Ian M. Frayling, Tristan Snowsill

Publikováno v: Snowsill, T M, Ryan, N, Crosbie, E, Frayling, I M, Evans, D G & Hyde, C J 2019, ' Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting ', P L o S One . https://doi.org/10.1371/journal.pone.0221419
PLoS ONE, Vol 14, Iss 8, p e0221419 (2019)
Snowsill, T M, Ryan, N A J, Crosbie, E J, Frayling, I M, Evans, D G & Hyde, C J 2019, ' Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting ', PLoS ONE, vol. 14, no. 8, pp. e0221419 . https://doi.org/10.1371/journal.pone.0221419
PLoS ONE

BackgroundLynch syndrome is a hereditary cancer syndrome caused by constitutional pathogenic variants in the DNA mismatch repair (MMR) system, leading to increased risk of colorectal, endometrial and other cancers. The study aimed to identify the inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3f1c4f9e5abe54f529fd1c483ef8dd7
https://doi.org/10.1371/journal.pone.0221419

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The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

Autor: Sarah Kitson, Andrew J Wallace, Simon Tobi, Rhona J McVey, Ian M. Frayling, Neil A J Ryan, D. Gareth Evans, Vanitha N Sivalingam, Sancha Bunstone, Naomi L. Bowers, James Bolton, Neal C Ramchander, Ioana E Mosneag, Tristan Snowsill, Emma J Crosbie, Raymond Mcmahon, Helena O'Flynn, Shona Esquibel

Publikováno v: PLoS Medicine, Vol 17, Iss 9, p e1003263 (2020)
Ryan, N A J, Dawson, L (ed.), McMahon, R, Tobi, S, Snowsill, T, Esquibel, S, Wallace, A J, Bunstone, S, Bowers, N, Mosneag, I E, Kitson, S J, O’Flynn, H, Ramchander, N C, Sivalingam, V N, Frayling, I M, Bolton, J, McVey, R J, Evans, D G & Crosbie, E J 2020, ' The Proportion of Endometrial Tumours Associated with Lynch Syndrome (PETALS): a prospective cross-sectional study ', PL o S Medicine . https://doi.org/10.1371/journal.pmed.1003263, https://doi.org/10.1371/journal.pmed.1003263
Ryan, N A J, McMahon, R, Tobi, S, Snowsill, T, Esquibel, S, Wallace, A J, Bunstone, S, Bowers, N, Mosneag, I E, Kitson, S J, O'Flynn, H, Ramchander, N C, Sivalingam, V N, Frayling, I M, Bolton, J, McVey, R J, Evans, D G & Crosbie, E J 2020, ' The proportion of endometrial tumours associated with Lynch syndrome (PETALS) : A prospective cross-sectional study ', PLoS Medicine, vol. 17, no. 9, pp. e1003263 . https://doi.org/10.1371/journal.pmed.1003263
PLoS Medicine

Background Lynch syndrome (LS) predisposes to endometrial cancer (EC), colorectal cancer, and other cancers through inherited pathogenic variants affecting mismatch-repair (MMR) genes. Diagnosing LS in women with EC can reduce subsequent cancer morta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b384f46817b9b9b8f00d6e3e59ec6337
https://doi.org/10.1371/journal.pmed.1003263

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The effects of mutational processes and selection on driver mutations across cancer types

Autor: Benjamin Schuster-Böckler, Ian Tomlinson, Daniel Temko, Trevor A. Graham, Simone Severini

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Nature Communications
Temko, D, Tomlinson, I P M, Severini, S, Schuster-Böckler, B & Graham, T A 2018, ' The effects of mutational processes and selection on driver mutations across cancer types ', Nature Communications, vol. 9, no. 1, pp. 1857 . https://doi.org/10.1038/s41467-018-04208-6

Epidemiological evidence has long associated environmental mutagens with increased cancer risk. However, links between specific mutation-causing processes and the acquisition of individual driver mutations have remained obscure. Here we have used pub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::538832f8397838095d1caf9bde04f5be
https://doi.org/10.1101/149096

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