Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Rachel, Susman"'
Autor:
Jihoon E. Joo, Khalid Mahmood, Romy Walker, Peter Georgeson, Ida Candiloro, Mark Clendenning, Julia Como, Sharelle Joseland, Susan Preston, Lise Graversen, Mathilda Wilding, Michael Field, Michelle Lemon, Janette Wakeling, Helen Marfan, Rachel Susman, Joanne Isbister, Emma Edwards, Michelle Bowman, Judy Kirk, Emilia Ip, Lynne McKay, Yoland Antill, John L. Hopper, Alex Boussioutas, Finlay A. Macrae, Alexander Dobrovic, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-17 (2023)
Abstract Background MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular profiles of MLH1 epimutation CRCs were used to classify germline MLH1 promot
Externí odkaz:
https://doaj.org/article/205aa9e2d6d045aca7e0fc588c972c5c
Autor:
Romy Walker, Khalid Mahmood, Jihoon E. Joo, Mark Clendenning, Peter Georgeson, Julia Como, Sharelle Joseland, Susan G. Preston, Yoland Antill, Rachel Austin, Alex Boussioutas, Michelle Bowman, Jo Burke, Ainsley Campbell, Simin Daneshvar, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Alex Henderson, Megan Higgins, John L. Hopper, Ryan A. Hutchinson, Emilia Ip, Joanne Isbister, Kais Kasem, Helen Marfan, Di Milnes, Annabelle Ng, Cassandra Nichols, Shona O’Connell, Nicholas Pachter, Bernard J. Pope, Nicola Poplawski, Abiramy Ragunathan, Courtney Smyth, Allan Spigelman, Kirsty Storey, Rachel Susman, Jessica A. Taylor, Linda Warwick, Mathilda Wilding, Rachel Williams, Aung K. Win, Michael D. Walsh, Finlay A. Macrae, Mark A. Jenkins, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan, for the Family Cancer Clinics of Australia
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
Abstract Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (S
Externí odkaz:
https://doaj.org/article/0b22829c0e7441adb30b2047fa688507
Autor:
Mohammad Al-Shinnag, Helen Marfan, Rachel Susman, Jan Wakeling, Sonja Gustafson, Simon Wood, Andrew John Mallett
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified
Externí odkaz:
https://doaj.org/article/c5401c7aaf2f4c0ba6600688cbce7ae6
Autor:
Yoland Antill, Paul A. James, Judy Kirk, Uwe Dressel, Nicola K. Poplawski, Lucinda Salmon, Nicholas Pachter, Aimee L Davidson, Sharron Townshend, Michael Gattas, Emma Tudini, Gillian Mitchell, Helen Mar Fan, Rachel Susman, Katherine M. Tucker, Robyn L. Ward, Michael Field, Ashley Crook, Alison H. Trainer, Amanda B. Spurdle, Lesley Andrews, Rebecca Harris
Publikováno v:
Journal of Medical Genetics. 58:853-858
BackgroundThe strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles.MethodsTo promote nation
Autor:
Anna L. Brown, Claire Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew Pozsgai, Kelsey McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah King-Smith, Jesse JC Cheah, Mark Armstrong, Csaba Bödör, Paul Wang, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D Lewis, Julian Cooney, Rachel Susman, Lucy C Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas W Schreiber, Christopher N Hahn, Hamish S Scott, Paul P. Liu, Lucy A. Godley
Germline variants in RUNX1, GATA2 and DDX41 may confer a predisposition to hereditary haematopoietic malignancies (HHMs) such as MDS and AML yet have distinct age ranges of malignancy diagnosis and a highly variable overall risk for leukemogenesis. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a20f1d2adfa0dcd6854f8f7a941739a
https://hdl.handle.net/11541.2/33177
https://hdl.handle.net/11541.2/33177
Autor:
Gregory Y. Lauwers, Namrata Setia, Joseph Misdraji, Ian Brown, John Hart, Jennifer Borowsky, Rod Conrad, Christophe Rosty, Rachel Susman
Publikováno v:
Modern Pathology. 32:1814-1822
Most patients with Cowden syndrome have lesions in the gastrointestinal tract, characterized by multiple polyps of various histologic types in the large bowel, polyps in the upper gastrointestinal tract, and esophageal glycogenic acanthosis. However,
Autor:
Seçil Aksoy, Michael O. Woods, Heinric Williams, Bruno Buecher, Finlay A. Macrae, Lotte N. Krogh, Jay Qiu, Wan K.W. Juhari, Jan T. Lowery, Anne-Marie Gerdes, Magnus von Knebel Doeberitz, Luigi Ricciardiello, Karsten Schulmann, Jose Luis Soto, Kristina Lagerstedt-Robinson, Kiwamu Akagi, Raj Ramesar, Uffe Birk Jensen, Angel Alonso, Robert Hüneburg, Olivier Caron, Michel Longy, Jan Lubinski, Kate Green, Annabel Goodwin, D. Gareth Evans, Julie Wods, Leigha Senter, Matthew F. Kalady, Mark Clendenning, Barbara A. Leggett, Ravindran Ankathil, Swati G. Patel, Julian Barwell, Katherine M. Tucker, Grant Lee, Pascaline Berthet, Dawn M. Nixon, Sonia S. Kupfer, Naohiro Tomita, Susan Parry, Trinidad Caldés, Robert W. Haile, Edenir Inêz Palmero, Karin Alvarez, Cassandra B. Nichols, Mark A. Jenkins, N. Jewel Samadder, Loic LeMarchand, John Burn, Francisco Lopez, Rodney J. Scott, Pierre Laurent-Puig, Julie Arnold, Christina Therkildsen, Hans K. Schackert, Pilar Garre, Reinhard Buettner, Adriana Della Valle, Patricia Esperon, Wolff Schmiegel, Karl Heinimann, Inge Bernstein, Matthias Kloor, Nicoline Hoogerbrugge, Rui Manuel Reis, Fränzel J.B. Van Duijnhoven, Christoph Engel, Mohd Nizam Zahary, Sylviane Olschwang, Sapna Syngal, Valérie Bonadona, Nicholas Pachter, Matilde Navarro, Albert de la Chapelle, Beate Betz, Jukka-Pekka Mecklin, Catherine Noguès, Elena M. Stoffel, Toni T. Seppälä, Chrystelle Colas, Anneke Lucassen, Allan D. Spigelman, Youenn Drouet, Elisa J. Cops, Uri Ladabaum, Steve Thibodeau, Jeffrey N. Weitzel, Fiona Lalloo, Patrick J. Morrison, Maurizio Genuardi, Kohji Tanakaya, Patrick M. Lynch, Frederik J. Hes, William D. Foulkes, Carmen Guillén-Ponce, Jenny von Salomé, Emilia Rogoża-Janiszewska, Andrew Latchford, John L. Hopper, Carrie Snyder, Verónica Barca-Tierno, Gabriela Möslein, Lauren M. Gima, Melissa C. Southey, Paul A. James, Marion Dhooge, Claudia Perne, Steven Gallinger, Heather Hampel, Amanda B. Spurdle, Ingrid Winship, Emmanuelle Fourme, Rish K. Pai, Daniela Turchetti, Marta Pineda, Jürgen Weitz, James Hill, Daniel D. Buchanan, Carlos A. Vaccaro, Noralane M. Lindor, Rachel Pearlman, Pål Møller, Christian P. Strassburg, Jane C. Figueiredo, Aída Falcón de Vargas, Silke Zachariae, Karolin Bucksch, Joanne Ngeow, Silke Redler, Henrik Okkels, Maija R.J. Kohonen-Corish, Hans F. A. Vasen, Verena Steinke-Lange, Roselyne Guimbaud, Deepak Vangala, Isabelle Coupier, Nils Rahner, Berrin Tunca, Sanne W. Bajwa-ten Broeke, Niels de Wind, Sophie Lejeune, José Gaston Guillem, Karin Wadt, Polly A. Newcomb, Elke Holinski-Feder, Florencia Neffa, Rodrigo Santa Cruz Guindalini, Paul E. Wise, Julian R. Sampson, Graham Casey, Lene Juel Rasmussen, Rolf H. Sijmons, Tadeusz Dębniak, Ann-Sofie Backman, Joji Utsunomiya, Melyssa Aronson, Aung Ko Win, Yves-Jean Bignon, Judy W. C. Ho, Robyn L. Ward, Mev Dominguez-Valentin, Karolina Malińska, Elizabeth E. Half, John-Paul Plazzer, Marjolijn J. L. Ligtenberg, Rachel Austin, Nicola K. Poplawski, Marcia Cruz-Correa, Nagahide Matsubara, Charlotte Kvist Lautrup, Thomas Hansen, Tatsuro Yamaguchi, Thomas John, David J. Amor, Ilana Solomon, Yun-Hee Choi, Meghan J. van Wanzeele, Rakefet Shtoyerman, Vanessa Huntley, Maartje Nielsen, Deborah Neklason, Kevin J. Monahan, Gülçin Tezcan, Stefan Aretz, Talya Boisjoli, Sophie Giraud, Thierry Frebourg, Christophe Rosty, Heike Görgens, Lone Sunde, Allyson Templeton, Jacob Nattermann, Mala Pande, Joan Brunet, Nancy Uhrhammer, James M. Church, Florencia Spirandelli, Laurent Briollais, James G. Dowty, Jeanette C. Reece, Rachel Susman, Fay Kastrinos, Kirsi Pylvänäinen, Gabriel Capellá, Helène Schuster, Min H. Chew, Markus Loeffler, Christine Lasset, Michael J. Hall, Capuccine Delnatte, Floor A. Duijkers
Publikováno v:
The Lancet Oncology, 22(7), 1014-1022. ELSEVIER SCIENCE INC
International Mismatch Repair Consortium, Sunde, L E M, Lautrup, C K, Okkels, H & Bernstein, I 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet. Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology
Lancet Oncology, Elsevier, 2021, 22 (7), pp.1014-1022. ⟨10.1016/S1470-2045(21)00189-3⟩
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology, 22, 7, pp. 1014-1022
Lancet Oncology, 22, 1014-1022
International Mismatch Repair Consortium, Sunde, L E M, Lautrup, C K, Okkels, H & Bernstein, I 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet. Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology
Lancet Oncology, Elsevier, 2021, 22 (7), pp.1014-1022. ⟨10.1016/S1470-2045(21)00189-3⟩
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology, 22, 7, pp. 1014-1022
Lancet Oncology, 22, 1014-1022
Findings 5585 families with Lynch syndrome from 22 countries were eligible for the analysis. Of these, there were insufficient numbers to estimate penetrance for Asia and South America, and for those with EPCAM variants. Therefore, we used data (coll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120a2365bb20955114b7ac66956df4fe
http://hdl.handle.net/1887/3213866
http://hdl.handle.net/1887/3213866
Autor:
Elizabeth C, Page, Elizabeth K, Bancroft, Mark N, Brook, Melissa, Assel, Mona, Hassan Al Battat, Sarah, Thomas, Natalie, Taylor, Anthony, Chamberlain, Jennifer, Pope, Holly Ni, Raghallaigh, D Gareth, Evans, Jeanette, Rothwell, Lovise, Maehle, Eli Marie, Grindedal, Paul, James, Lyon, Mascarenhas, Joanne, McKinley, Lucy, Side, Tessy, Thomas, Christi, van Asperen, Hans, Vasen, Lambertus A, Kiemeney, Janneke, Ringelberg, Thomas Dyrsø, Jensen, Palle J S, Osther, Brian T, Helfand, Elena, Genova, Rogier A, Oldenburg, Cezary, Cybulski, Dominika, Wokolorczyk, Kai-Ren, Ong, Camilla, Huber, Jimmy, Lam, Louise, Taylor, Monica, Salinas, Lidia, Feliubadaló, Jan C, Oosterwijk, Wendy, van Zelst-Stams, Jackie, Cook, Derek J, Rosario, Susan, Domchek, Jacquelyn, Powers, Saundra, Buys, Karen, O'Toole, Margreet G E M, Ausems, Rita K, Schmutzler, Kerstin, Rhiem, Louise, Izatt, Vishakha, Tripathi, Manuel R, Teixeira, Marta, Cardoso, William D, Foulkes, Armen, Aprikian, Heleen, van Randeraad, Rosemarie, Davidson, Mark, Longmuir, Mariëlle W G, Ruijs, Apollonia T J M, Helderman van den Enden, Muriel, Adank, Rachel, Williams, Lesley, Andrews, Declan G, Murphy, Dorothy, Halliday, Lisa, Walker, Annelie, Liljegren, Stefan, Carlsson, Ashraf, Azzabi, Irene, Jobson, Catherine, Morton, Kylie, Shackleton, Katie, Snape, Helen, Hanson, Marion, Harris, Marc, Tischkowitz, Amy, Taylor, Judy, Kirk, Rachel, Susman, Rakefet, Chen-Shtoyerman, Allan, Spigelman, Nicholas, Pachter, Munaza, Ahmed, Teresa, Ramon Y Cajal, Janez, Zgajnar, Carole, Brewer, Neus, Gadea, Angela F, Brady, Theo, van Os, David, Gallagher, Oskar, Johannsson, Alan, Donaldson, Julian, Barwell, Nicola, Nicolai, Eitan, Friedman, Elias, Obeid, Lynn, Greenhalgh, Vedang, Murthy, Lucia, Copakova, Sibel, Saya, John, McGrath, Peter, Cooke, Karina, Rønlund, Kate, Richardson, Alex, Henderson, Soo H, Teo, Banu, Arun, Karin, Kast, Alexander, Dias, Neil K, Aaronson, Audrey, Ardern-Jones, Chris H, Bangma, Elena, Castro, David, Dearnaley, Diana M, Eccles, Karen, Tricker, Jorunn, Eyfjord, Alison, Falconer, Christopher, Foster, Henrik, Gronberg, Freddie C, Hamdy, Vigdis, Stefansdottir, Vincent, Khoo, Geoffrey J, Lindeman, Jan, Lubinski, Karol, Axcrona, Christos, Mikropoulos, Anita, Mitra, Clare, Moynihan, Gadi, Rennert, Mohnish, Suri, Penny, Wilson, Tim, Dudderidge, Judith, Offman, Zsofia, Kote-Jarai, Andrew, Vickers, Hans, Lilja, Rosalind A, Eeles
Publisher's version (útgefin grein).
Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with g
Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::041561ac7768dda1598f1ea52243e35e
https://hdl.handle.net/20.500.11815/1523
https://hdl.handle.net/20.500.11815/1523
Autor:
Katherine L. Tucker, Judy Kirk, Kristine Barlow-Stewart, Veronica F. Quinn, Marion Harris, Kaaren J. Watts, Christobel Saunders, Llew Mills, Gillian Mitchell, Rachel Susman, Michael Field, Bettina Meiser, Margaret Gleeson, Belinda Rahman, Yoland Antill, Michael T. Bowen, Elizabeth Geelhoed, Michelle Peate
Publikováno v:
European Journal of Human Genetics. 26:972-983
In patients with early breast cancer, personal and tumour characteristics other than family history are increasingly used to prompt genetic testing to guide women’s cancer management (treatment-focused genetic testing, ‘TFGT’). Women without a
Autor:
Andrew Dubowsky, Jinghua Feng, Amanda Wells, Stefan Fröhling, Meryl Altree, Andreas W. Schreiber, Sue Morgan, Lesley Rawlings, Richard J D'Andrea, Anna L. Brown, Chan-Eng Chong, Joëlle Michaud, Andrew H. Wei, Georges Natsoulis, Jeffrey Suttle, Rachel Susman, Cassandra Vakulin, Tilmann Bochtler, Uday R. Popat, Mark S. Currie, Paul Wang, Milena Babic, Ella J Wilkins, Christopher N. Hahn, Miriam Fine, Xiaochun Li, Jessica Burdett, Belinda Mercorella, Catherine Carmichael, Nigel Patton, Denae Henry, Marshall S. Horwitz, Peer Arts, Kerry Phillips, Julian Cooney, Sarah Moore, Sally Mapp, Nicola K. Poplawski, Thuong Ha, Sarah L King-Smith, Louise Jaensch, Shai Izraeli, Devendra K Hiwase, Julia Dobbins, Lucy A. Godley, Cecily Forsyth, Kenneth F. Bradstock, Carolyn M. Butcher, Helen Mar Fan, Grace McKavanagh, Hugh Y. Rienhoff, Hamish S. Scott, Mario Nicola, Elli Papaemmanuil, Ping Cannon, Ian D. Lewis, Claire C. Homan, Peter J. Brautigan, Alwin Krämer
Publikováno v:
Blood advances. 4(6)
First reported in 1999, germline runt-related transcription factor 1 (RUNX1) mutations are a well-established cause of familial platelet disorder with predisposition to myeloid malignancy (FPD-MM). We present the clinical phenotypes and genetic mutat