Cancer: dermatological

Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits
Matteo Di Giovannantonio, Benjamin HL Harris, Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Natasha Sahgal, Giovanni Stracquadanio, Marsha Wallace, Sarah Blagden, Simon Lord, David Harris, Adrian H.L. Harris, Francesca M. Buffa, Gareth L. Bond

Journal of Medical Genetics Jun 2021, 58 (6) 392-399; DOI: 10.1136/jmedgenet-2019-106799
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis, Veronica Höiom, Håkan Olsson, Remco van Doorn, Hans F A Vasen, Christi J van Asperen, Olaf M Dekkers, Frederik J Hes

Journal of Medical Genetics Oct 2018, 55 (10) 661-668; DOI: 10.1136/jmedgenet-2017-105205
NEK11 as a candidate high-penetrance melanoma susceptibility gene
Eirini Christodoulou, Remco van Doorn, Mijke Visser, Amina Teunisse, Mieke Versluis, Pieter van der Velden, Nicholas K Hayward, Aart Jochemsen, Nelleke Gruis

Journal of Medical Genetics Mar 2020, 57 (3) 203-210; DOI: 10.1136/jmedgenet-2019-106134
Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N’Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets

Journal of Medical Genetics Sep 2017, 54 (9) 607-612; DOI: 10.1136/jmedgenet-2016-104402
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges
Jaime Vengoechea, Christine Tallo

Journal of Medical Genetics Oct 2017, 54 (10) 682-684; DOI: 10.1136/jmedgenet-2017-104690
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 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
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
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis
Hongzhou Cui, Longnian Li, Wenjun Wang, Jie Shen, Zhen Yue, Xiaodong Zheng, Xianbo Zuo, Bo Liang, Min Gao, Xing Fan, Xianyong Yin, Changbing Shen, Chao Yang, Change Zhang, Xiaoguang Zhang, Yujun Sheng, Jinping Gao, Zhengwei Zhu, Da Lin, Anping Zhang, Zaixing Wang, Shengxiu Liu, Liangdan Sun, Sen Yang, Yong Cui, Xuejun Zhang

Journal of Medical Genetics Oct 2014, 51 (10) 699-704; DOI: 10.1136/jmedgenet-2014-102486

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Cancer: dermatological