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Oncology

  • Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population
    Hui Dong, Khyati Chandratre, Yue Qin, Jing Zhang, Xiaoqing Tian, Ce Rong, Ning Wang, Maoni Guo, Guoping Zhao, San Ming Wang
    Journal of Medical Genetics Aug 2021, 58 (8) 565-569; DOI: 10.1136/jmedgenet-2020-106970
  • Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
    Alice Alessandra Galeotti, Manuel Gentiluomo, Cosmeri Rizzato, Ofure Obazee, John P Neoptolemos, Claudio Pasquali, Michael Nentwich, Giulia Martina Cavestro, Raffaele Pezzilli, William Greenhalf, Bernd Holleczek, Cornelia Schroeder, Ben Schöttker, Audrius Ivanauskas, Laura Ginocchi, Timothy J Key, Péter Hegyi, Livia Archibugi, Erika Darvasi, Daniela Basso, Cosimo Sperti, Maarten F Bijlsma, Orazio Palmieri, Viktor Hlavac, Renata Talar-Wojnarowska, Beatrice Mohelnikova-Duchonova, Thilo Hackert, Yogesh Vashist, Ondrej Strouhal, Hanneke van Laarhoven, Francesca Tavano, Martin Lovecek, Christos Dervenis, Ferenc Izbéki, Andrea Padoan, Ewa Małecka-Panas, Evaristo Maiello, Giuseppe Vanella, Gabriele Capurso, Jakob R Izbicki, George E Theodoropoulos, Krzysztof Jamroziak, Verena Katzke, Rudolf Kaaks, Andrea Mambrini, Ioannis S Papanikolaou, Richárd Szmola, Andrea Szentesi, Juozas Kupcinskas, Simona Bursi, Eithne Costello, Ugo Boggi, Anna Caterina Milanetto, Stefano Landi, Maria Gazouli, Ludmila Vodickova, Pavel Soucek, Domenica Gioffreda, Federica Gemignani, Hermann Brenner, Oliver Strobel, Markus Büchler, Pavel Vodicka, Salvatore Paiella, Federico Canzian, Daniele Campa
    Journal of Medical Genetics Jun 2021, 58 (6) 369-377; DOI: 10.1136/jmedgenet-2020-106961
  • Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
    Kasper A Overbeek, Mar DM Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Jan C Oosterwijk, Theo A van Os, Lizet E van der Kolk, Hans F A Vasen, Frederik J Hes, Djuna L Cahen, Marco J Bruno, Thomas P Potjer
    Journal of Medical Genetics Apr 2021, 58 (4) 264-269; DOI: 10.1136/jmedgenet-2019-106562
  • Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
    Alice Garrett, Alison Callaway, Miranda Durkie, Cankut Cubuk, Mary Alikian, George J Burghel, Rachel Robinson, Louise Izatt, Sabrina Talukdar, Lucy Side, Treena Cranston, Sheila Palmer-Smith, Diana Baralle, Ian R Berry, James Drummond, Andrew J Wallace, Gail Norbury, Diana M Eccles, Sian Ellard, Fiona Lalloo, D Gareth Evans, Emma Woodward, Marc Tischkowitz, Helen Hanson, Clare Turnbull
    Journal of Medical Genetics Dec 2020, 57 (12) 829-834; DOI: 10.1136/jmedgenet-2019-106759
  • Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
    Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Ruth T Casey, Nicola Bradshaw, Julian Adlard, Simon Aylwin, Paul Brennan, Carole Brewer, Trevor Cole, Jackie A Cook, Rosemarie Davidson, Alan Donaldson, Alan Fryer, Lynn Greenhalgh, Shirley V hodgson, Richard Irving, Fiona Lalloo, Michelle McConachie, Vivienne P M McConnell, Patrick J Morrison, Victoria Murday, Soo-Mi Park, Helen L Simpson, Katie Snape, Susan Stewart, Susan E Tomkins, Yvonne Wallis, Louise Izatt, David Goudie, Robert S Lindsay, Colin G Perry, Emma R Woodward, Antonis C Antoniou, Eamonn R Maher
    Journal of Medical Genetics Jun 2018, 55 (6) 384-394; DOI: 10.1136/jmedgenet-2017-105127
  • CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study
    Patrick R Benusiglio, David Malka, Etienne Rouleau, Antoine De Pauw, Bruno Buecher, Catherine Noguès, Emmanuelle Fourme, Chrystelle Colas, Florence Coulet, Mathilde Warcoin, Sophie Grandjouan, Alain Sezeur, Pierre Laurent-Puig, Diane Molière, Camille Tlemsani, Marina Di Maria, Veronique Byrde, Suzette Delaloge, Martine Blayau, Olivier Caron
    Journal of Medical Genetics Jul 2013, 50 (7) 486-489; DOI: 10.1136/jmedgenet-2012-101472
  • Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population
    Alisa D Kjaergaard, Julia S Johansen, Børge G Nordestgaard, Stig E Bojesen
    Journal of Medical Genetics Dec 2013, 50 (12) 831-837; DOI: 10.1136/jmedgenet-2013-101908
  • Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy
    Luis J Leandro-García, Lucía Inglada-Pérez, Guillermo Pita, Elisabet Hjerpe, Susanna Leskelä, Carlos Jara, Xabier Mielgo, Anna González-Neira, Mercedes Robledo, Elisabeth Åvall-Lundqvist, Henrik Gréen, Cristina Rodríguez-Antona
    Journal of Medical Genetics Sep 2013, 50 (9) 599-605; DOI: 10.1136/jmedgenet-2012-101466
  • Transmission of germline TP53 mutations from male carriers to female partners
    Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, Ludovic Mansuy, Myriam Bronner, Christine Lasset, Laurence Brugières, François Golfier, Thierry Frebourg
    Journal of Medical Genetics Mar 2015, 52 (3) 145-146; DOI: 10.1136/jmedgenet-2014-102853
  • Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants
    Sarah Jervis, Honglin Song, Andrew Lee, Ed Dicks, Jonathan Tyrer, Patricia Harrington, Douglas F Easton, Ian J Jacobs, Paul P D Pharoah, Antonis C Antoniou
    Journal of Medical Genetics Feb 2014, 51 (2) 108-113; DOI: 10.1136/jmedgenet-2013-102015

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