Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Judy Kirk"'
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:
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:
Yuyan Chen, Mark Pinese, Claire Wakefield, Frank Alvaro, Katherine Tucker, Tracey A O’Brien, Vanessa J Tyrrell, Judy Kirk, Kate Hetherington, Eliza Courtney, Kristine Barlow-Stewart, Noemi Auxiliadora Fuentes Bolanos, Bhavna Padhye, Macabe Daley, Jacqueline Hunter, Meera Warby, Sarah Josephi-Taylor, Marie Wong-Erasmus, Paulette Barahona, Pamela Ajuyah, Ann-Kristin Altekoester, Loretta M S Lau, Dianne Sylvester, Luciano Dalla Pozza
Publikováno v:
BMJ Open, Vol 13, Iss 5 (2023)
Introduction Identifying an underlying germline cancer predisposition (CP) in a child with cancer has potentially significant implications for both the child and biological relatives. Cohort studies indicate that 10%–15% of paediatric cancer patien
Externí odkaz:
https://doaj.org/article/da226946131d4fd0bb6f8385a8b6d90d
Autor:
Omali Pitiyarachchi, Yeh Chen Lee, Hao-Wen Sim, Sivatharsny Srirangan, Cristina Mapagu, Judy Kirk, Paul R. Harnett, Rosemary L. Balleine, David D.L. Bowtell, Goli Samimi, Alison H. Brand, Deborah J. Marsh, Philip Beale, Lyndal Anderson, Natalie Bouantoun, Pamela Provan, Susan J. Ramus, Anna DeFazio, Michael Friedlander
Publikováno v:
Translational Oncology, Vol 31, Iss , Pp 101638- (2023)
Background: Somatic pathogenic variants (PVs) in homologous recombination DNA repair (HR)-related genes found in high-grade serous ovarian carcinomas (HGSC) are not well-characterised in older patients (≥70 years). This may reflect low testing rate
Externí odkaz:
https://doaj.org/article/05e8b7eb7bab4b7a9ce7d16d06ef35d0
Autor:
Melissa C. Southey, James G. Dowty, Moeen Riaz, Jason A. Steen, Anne-Laure Renault, Katherine Tucker, Judy Kirk, Paul James, Ingrid Winship, Nicholas Pachter, Nicola Poplawski, Scott Grist, Daniel J. Park, Bernard J. Pope, Khalid Mahmood, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Derrick Theys, Amanda Rewse, Amanda Willis, April Morrow, Catherine Speechly, Rebecca Harris, Robert Sebra, Eric Schadt, Paul Lacaze, John J. McNeil, Graham G. Giles, Roger L. Milne, John L. Hopper, Tú Nguyen-Dumont
Publikováno v:
npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
Abstract Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently required. Most prior research has been based on women selected for high-risk features and more data is needed
Externí odkaz:
https://doaj.org/article/e1da7e8351b04cec94eb8ba4ee5e1962
Autor:
Amelia K Smit, Ainsley J Newson, Louise Keogh, Megan Best, Kate Dunlop, Kylie Vuong, Judy Kirk, Phyllis Butow, Lyndal Trevena, Anne E Cust
Publikováno v:
BJGP Open, Vol 3, Iss 1 (2019)
Background: As part of a pilot randomised controlled trial examining the impact of personal melanoma genomic risk information on behavioural and psychosocial outcomes, GPs were sent a booklet containing their patient’s genomic risk of melanoma. Aim
Externí odkaz:
https://doaj.org/article/c20b8a46ad544557a77daf798d088bed
Autor:
Elena Vigorito, Karoline B Kuchenbaecker, Jonathan Beesley, Julian Adlard, Bjarni A Agnarsson, Irene L Andrulis, Banu K Arun, Laure Barjhoux, Muriel Belotti, Javier Benitez, Andreas Berger, Anders Bojesen, Bernardo Bonanni, Carole Brewer, Trinidad Caldes, Maria A Caligo, Ian Campbell, Salina B Chan, Kathleen B M Claes, David E Cohn, Jackie Cook, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Antoine de Pauw, Capucine Delnatte, Orland Diez, Susan M Domchek, Martine Dumont, Katarzyna Durda, Bernd Dworniczak, Douglas F Easton, Diana Eccles, Christina Edwinsdotter Ardnor, Ros Eeles, Bent Ejlertsen, Steve Ellis, D Gareth Evans, Lidia Feliubadalo, Florentia Fostira, William D Foulkes, Eitan Friedman, Debra Frost, Pragna Gaddam, Patricia A Ganz, Judy Garber, Vanesa Garcia-Barberan, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Sophie Giraud, Andrew K Godwin, David E Goldgar, Christopher R Hake, Thomas V O Hansen, Sue Healey, Shirley Hodgson, Frans B L Hogervorst, Claude Houdayer, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Lauren Jacobs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Uffe Birk Jensen, Esther M John, Joseph Vijai, Beth Y Karlan, Karin Kast, KConFab Investigators, Sofia Khan, Ava Kwong, Yael Laitman, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jan Lubinski, Phuong L Mai, Siranoush Manoukian, Sylvie Mazoyer, Alfons Meindl, Arjen R Mensenkamp, Marco Montagna, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Ana Osorio, Sue Kyung Park, Ylva Paulsson-Karlsson, Inge Sokilde Pedersen, Bernard Peissel, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Marion Piedmonte, Bruce Poppe, Miquel Angel Pujana, Paolo Radice, Gad Rennert, Gustavo C Rodriguez, Matti A Rookus, Eric A Ross, Rita Katharina Schmutzler, Jacques Simard, Christian F Singer, Thomas P Slavin, Penny Soucy, Melissa Southey, Doris Steinemann, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Athanassios Vratimos, Jeffrey N Weitzel, Lesley McGuffog, Judy Kirk, Amanda Ewart Toland, Ute Hamann, Noralane Lindor, Susan J Ramus, Mark H Greene, Fergus J Couch, Kenneth Offit, Paul D P Pharoah, Georgia Chenevix-Trench, Antonis C Antoniou
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0158801 (2016)
Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identif
Externí odkaz:
https://doaj.org/article/3218667a15f94b26bb725ac2e8a2bbda
Autor:
Hayley C Whitaker, Zsofia Kote-Jarai, Helen Ross-Adams, Anne Y Warren, Johanna Burge, Anne George, Elizabeth Bancroft, Sameer Jhavar, Daniel Leongamornlert, Malgorzata Tymrakiewicz, Edward Saunders, Elizabeth Page, Anita Mitra, Gillian Mitchell, Geoffrey J Lindeman, D Gareth Evans, Ignacio Blanco, Catherine Mercer, Wendy S Rubinstein, Virginia Clowes, Fiona Douglas, Shirley Hodgson, Lisa Walker, Alan Donaldson, Louise Izatt, Huw Dorkins, Alison Male, Kathy Tucker, Alan Stapleton, Jimmy Lam, Judy Kirk, Hans Lilja, Douglas Easton, IMPACT Study Steering Committee, IMPACT Study Collaborators, UK GPCS Collaborators, Colin Cooper, Rosalind Eeles, David E Neal
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13363 (2010)
Microseminoprotein-beta (MSMB) regulates apoptosis and using genome-wide association studies the rs10993994 single nucleotide polymorphism in the MSMB promoter has been linked to an increased risk of developing prostate cancer. The promoter location
Externí odkaz:
https://doaj.org/article/4071d7f5c507467a8717560736280a71
Autor:
Shweta Srinivasa, Michelle Bowman, Leanna Titterton, Paul Harnett, Alison Brand, Judy Kirk, Abiramy Ragunathan
Publikováno v:
Australian and New Zealand Journal of Obstetrics and Gynaecology. 63:241-246
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9ff7339d8dd100de5069f8ee67b5011
https://doi.org/10.1111/ajo.13650
https://doi.org/10.1111/ajo.13650
Autor:
Anne E. Cust, Graham J. Mann, Peter A. Kanetsky, Judy Kirk, Suzanne J. Dobbinson, Louise A. Keogh, Michael G. Kimlin, Matthew H. Law, Phyllis N. Butow, Kate Dunlop, Lucinda Freeman, Georgina Fenton, Rachael L. Morton, Ainsley J. Newson, David Espinoza, Amelia K. Smit
A copy of a booklet communicating personalised risk of melanoma.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e002168cf0d1bf0c95af891063c2b40
https://doi.org/10.1158/1055-9965.22436464
https://doi.org/10.1158/1055-9965.22436464
