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Cancer: endocrine

  • Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
    Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, Karen Hosking, Anna Piskorz, Elke van Oudenhove, Jen Doherty, Holly R Harris, Mary Anne Rossing, Matthias Duerst, Thilo Dork, Natalia V Bogdanova, Francesmary Modugno, Kirsten Moysich, Kunle Odunsi, Roberta Ness, Beth Y Karlan, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Ian G Campbell, Conxi Lázaro, Miguel Angel Pujara, Julie Cunningham, Robert Vierkant, Stacey J Winham, Michelle Hildebrandt, Chad Huff, Donghui Li, Xifeng Wu, Yao Yu, Jennifer B Permuth, Douglas A Levine, Joellen M Schildkraut, Marjorie J Riggan, Andrew Berchuck, Penelope M Webb, OPAL Study Group, Cezary Cybulski, Jacek Gronwald, Anna Jakubowska, Jan Lubinski, Jennifer Alsop, Patricia Harrington, Isaac Chan, Usha Menon, Celeste L Pearce, Anna H Wu, Anna de Fazio, Catherine J Kennedy, Ellen Goode, Susan Ramus, Simon Gayther, Paul Pharoah
    Journal of Medical Genetics May 2021, 58 (5) 305-313; DOI: 10.1136/jmedgenet-2019-106739
  • 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
  • Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
    Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo
    Journal of Medical Genetics Feb 2017, 54 (2) 125-133; DOI: 10.1136/jmedgenet-2016-104297
  • New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations
    Cristina Romei, Francesca Casella, Alessia Tacito, Valeria Bottici, Laura Valerio, David Viola, Virginia Cappagli, Antonio Matrone, Raffaele Ciampi, Paolo Piaggi, Clara Ugolini, Liborio Torregrossa, Fulvio Basolo, Gabriele Materazzi, Paolo Vitti, Rossella Elisei
    Journal of Medical Genetics Nov 2016, 53 (11) 729-734; DOI: 10.1136/jmedgenet-2016-103833
  • Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
    Maria Currás-Freixes, Lucía Inglada-Pérez, Veronika Mancikova, Cristina Montero-Conde, Rocío Letón, Iñaki Comino-Méndez, María Apellániz-Ruiz, Lara Sánchez-Barroso, Miguel Aguirre Sánchez-Covisa, Victoria Alcázar, Javier Aller, Cristina Álvarez-Escolá, Víctor M Andía-Melero, Sharona Azriel-Mira, María Calatayud-Gutiérrez, José Ángel Díaz, Alberto Díez-Hernández, Cristina Lamas-Oliveira, Mónica Marazuela, Xavier Matias-Guiu, Amparo Meoro-Avilés, Ana Patiño-García, Susana Pedrinaci, Garcilaso Riesco-Eizaguirre, Constantino Sábado-Álvarez, Raquel Sáez-Villaverde, Amaya Sainz de los Terreros, Óscar Sanz Guadarrama, Julia Sastre-Marcos, Bartolomé Scolá-Yurrita, Ángel Segura-Huerta, Maria de la Soledad Serrano-Corredor, María Rosa Villar-Vicente, Cristina Rodríguez-Antona, Esther Korpershoek, Alberto Cascón, Mercedes Robledo
    Journal of Medical Genetics Oct 2015, 52 (10) 647-656; DOI: 10.1136/jmedgenet-2015-103218
  • Confirmation of papillary thyroid cancer susceptibility loci identified by genome-wide association studies of chromosomes 14q13, 9q22, 2q35 and 8p12 in a Chinese population
    Yu-Long Wang, Shou-Hao Feng, Shi-Cheng Guo, Wen-Jun Wei, Duan-Shu Li, Yu Wang, Xiaofeng Wang, Zhuo-Ying Wang, Yan-Yun Ma, Li Jin, Qing-Hai Ji, Jiu-Cun Wang
    Journal of Medical Genetics Oct 2013, 50 (10) 689-695; DOI: 10.1136/jmedgenet-2013-101687
  • Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and meta-analysis
    Leonie Theresia van Hulsteijn, Olaf M Dekkers, Frederik J Hes, Jan W A Smit, E P M Corssmit
    Journal of Medical Genetics Dec 2012, 49 (12) 768-776; DOI: 10.1136/jmedgenet-2012-101192