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Cancer: dermatological

  • An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignancies
    Maria J Baker, Alisa M Goldstein, Patricia L Gordon, Kimberly S Harbaugh, Heath B Mackley, Michael J Glantz, Joseph J Drabick
    Journal of Medical Genetics Nov 2016, 53 (11) 721-727; DOI: 10.1136/jmedgenet-2015-103446
  • Melanoma genetics
    Jazlyn Read, Karin A W Wadt, Nicholas K Hayward
    Journal of Medical Genetics Jan 2016, 53 (1) 1-14; DOI: 10.1136/jmedgenet-2015-103150
  • Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma
    Justin Rendleman, Matjaz Vogelsang, Anuj Bapodra, Christina Adaniel, Ines Silva, Duane Moogk, Carlos N Martinez, Nathaniel Fleming, Jerry Shields, Richard Shapiro, Russell Berman, Anna Pavlick, David Polsky, Yongzhao Shao, Iman Osman, Michelle Krogsgaard, Tomas Kirchhoff
    Journal of Medical Genetics Apr 2015, 52 (4) 231-239; DOI: 10.1136/jmedgenet-2014-102832
  • DCAF4, a novel gene associated with leucocyte telomere length
    Massimo Mangino, Lene Christiansen, Rivka Stone, Steven C Hunt, Kent Horvath, Dan T A Eisenberg, Masayuki Kimura, Inge Petersen, Jeremy D Kark, Utz Herbig, Alex P Reiner, Athanase Benetos, Veryan Codd, Dale R Nyholt, Ronit Sinnreich, Kaare Christensen, Hisham Nassar, Shih-Jen Hwang, Daniel Levy, Veronique Bataille, Annette L Fitzpatrick, Wei Chen, Gerald S Berenson, Nilesh J Samani, Nicholas G Martin, Sarah Tishkoff, Nicholas J Schork, Kirsten Ohm Kyvik, Christine Dalgård, Timothy D Spector, Abraham Aviv
    Journal of Medical Genetics Mar 2015, 52 (3) 157-162; DOI: 10.1136/jmedgenet-2014-102681
  • High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
    Hildur Helgadottir, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Åke Borg, Håkan Olsson, Johan Hansson
    Journal of Medical Genetics Aug 2014, 51 (8) 545-552; DOI: 10.1136/jmedgenet-2014-102320
  • High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
    Virginie Bubien, Françoise Bonnet, Veronique Brouste, Stéphanie Hoppe, Emmanuelle Barouk-Simonet, Albert David, Patrick Edery, Armand Bottani, Valérie Layet, Olivier Caron, Brigitte Gilbert-Dussardier, Capucine Delnatte, Catherine Dugast, Jean-Pierre Fricker, Dominique Bonneau, Nicolas Sevenet, Michel Longy, Frédéric Caux, French Cowden Disease Network
    Journal of Medical Genetics Apr 2013, 50 (4) 255-263; DOI: 10.1136/jmedgenet-2012-101339
  • Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
    Hanne Eknes Puntervoll, Xiaohong R Yang, Hildegunn Høberg Vetti, Ingeborg M Bachmann, Marie Françoise Avril, Meriem Benfodda, Caterina Catricalà, Stéphane Dalle, Anne B Duval-Modeste, Paola Ghiorzo, Paola Grammatico, Mark Harland, Nicholas K Hayward, Hui-Han Hu, Thomas Jouary, Tanguy Martin-Denavit, Aija Ozola, Jane M Palmer, Lorenza Pastorino, Dace Pjanova, Nadem Soufir, Solrun J Steine, Alexander J Stratigos, Luc Thomas, Julie Tinat, Hensin Tsao, Rūta Veinalde, Margaret A Tucker, Brigitte Bressac-de Paillerets, Julia A Newton-Bishop, Alisa M Goldstein, Lars A Akslen, Anders Molven
    Journal of Medical Genetics Apr 2013, 50 (4) 264-270; DOI: 10.1136/jmedgenet-2012-101455
  • Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
    Femme Harinck, Irma Kluijt, Nienke van der Stoep, Rogier A Oldenburg, Anja Wagner, Cora M Aalfs, Rolf H Sijmons, Jan-Werner Poley, Ernst J Kuipers, Paul Fockens, Theo A M van Os, Marco J Bruno
    Journal of Medical Genetics Jun 2012, 49 (6) 362-365; DOI: 10.1136/jmedgenet-2011-100563
  • Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
    Mohamed H Abdel-Rahman, Robert Pilarski, Colleen M Cebulla, James B Massengill, Benjamin N Christopher, Getachew Boru, Peter Hovland, Frederick H Davidorf
    Journal of Medical Genetics Dec 2011, 48 (12) 856-859; DOI: 10.1136/jmedgenet-2011-100156
  • Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK
    Anne E Cust, Mark Harland, Enes Makalic, Daniel Schmidt, James G Dowty, Joanne F Aitken, Chantelle Agha-Hamilton, Bruce K Armstrong, Jenny H Barrett, May Chan, Yu-Mei Chang, Joanne Gascoyne, Graham G Giles, Elizabeth A Holland, Richard F Kefford, Kairen Kukalizch, Johanna Lowery, Juliette A Randerson-Moor, Helen Schmid, Claire F Taylor, Linda Whitaker, John L Hopper, Julia A Newton-Bishop, Graham J Mann, D Timothy Bishop, Mark A Jenkins
    Journal of Medical Genetics Apr 2011, 48 (4) 266-272; DOI: 10.1136/jmg.2010.086538

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