Journal of Medical Genetics: 56 (6)

Cancer genetics

Position statement: Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report (8 April, 2019) Free
Amanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, Melissa Brown, Leslie Burke, Miguel de la Hoya, Susan Domchek, Thilo Dörk, Helen V Firth, Alvaro N Monteiro, Arjen Mensenkamp, Michael T Parsons, Paolo Radice, Mark Robson, Marc Tischkowitz, Emma Tudini, Clare Turnbull, Maaike PG Vreeswijk, Logan C Walker, Sean Tavtigian, Diana M Eccles
Original article: Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients (11 February, 2019)
Xiang Peng, Jinchao Chen, Jiangyi Wang, Shuanghe Peng, Shengjie Liu, Kaifang Ma, Jingcheng Zhou, Baoan Hong, Bowen Zhou, Jiufeng Zhang, Lin Cai, Kan Gong

Review: Features, genetics and their correlation in Jalili syndrome: a systematic review (31 January, 2019)
Yousef Daneshmandpour, Hossein Darvish, Fariba Pashazadeh, Babak Emamalizadeh

Original article: Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC) (11 February, 2019)
Winifred Lo, Bin Zhu, Arvind Sabesan, Ho-Hsiang Wu, Astin Powers, Rebecca A Sorber, Sarangan Ravichandran, Ina Chen, Lucas A McDuffie, Humair S Quadri, Joal D Beane, Kathleen Calzone, Markku M Miettinen, Stephen M Hewitt, Christopher Koh, Theo Heller, Sholom Wacholder, Udo Rudloff

Original article:
MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
(20 December, 2018)
Kohji Kato, Fuyuki Miya, Nanako Hamada, Yutaka Negishi, Yoko Narumi-Kishimoto, Hiroshi Ozawa, Hidenori Ito, Ikumi Hori, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Yonehiro Kanemura, Kenjiro Kosaki, Yoshiyuki Takahashi, Koh-ichi Nagata, Shinji Saitoh

Original article: Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (6 March, 2019)
Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, Eiji Nakagawa, Tetsuya Okazaki, Yoshiko Nomura, Yoshitaka Iijima, Ichiro Kajiura, Kenji Sugai, Takashi Saito, Masayuki Sasaki, Kotaro Yuge, Tomoko Saikusa, Nobuhiko Okamoto, Satoru Takahashi, Masano Amamoto, Ichiro Tomita, Satoko Kumada, Yuki Anzai, Kyoko Hoshino, Aviva Fattal-Valevski, Naohide Shiroma, Masaharu Ohfu, Masaharu Moroto, Koichi Tanda, Tomoko Nakagawa, Takafumi Sakakibara, Shin Nabatame, Muneaki Matsuo, Akiko Yamamoto, Shoko Yukishita, Ken Inoue, Chikako Waga, Yoko Nakamura, Shoko Watanabe, Chihiro Ohba, Toru Sengoku, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Hirotomo Saitsu, Toyojiro Matsuishi, Yu-ichi Goto, Naomichi Matsumoto
Short report: Leveraging the power of new molecular technologies in the clinical setting requires unprecedented awareness of limitations and drawbacks: experience of one diagnostic laboratory (21 September, 2018)
Landry Nfonsam, Shelley Ordorica, Mahdi Ghani, Ryan Potter, Audrey Schaffer, Hussein Daoud, Nasim Vasli, Caitlin Chisholm, Elizabeth Sinclair-Bourque, Jean McGowan-Jordan, Amanda C Smith, Olga Jarinova, Lucas Bronicki

Short report: Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology (21 September, 2018)
Takanobu Inoue, Hideaki Yagasaki, Junko Nishioka, Akie Nakamura, Keiko Matsubara, Satoshi Narumi, Kazuhiko Nakabayashi, Kazuki Yamazawa, Tomoko Fuke, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami