Journal of Medical Genetics: 54 (11)

Cancer genetics

Review: DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment (2 September, 2017) Free
Amanda Ewart Toland, Paul R Andreassen
Original article:
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks
(4 August, 2017)
Brennan Decker, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Shahana Ahmed, Caroline Baynes, Don M Conroy, Judith Brown, Robert Luben, Elaine A Ostrander, Paul DP Pharoah, Alison M Dunning, Douglas F Easton
Original article: Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry (4 August, 2017)
Mira Goldberg, Kathleen Bell, Melyssa Aronson, Kara Semotiuk, Greg Pond, Steven Gallinger, Kevin Zbuk

Original article:
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction
(4 August, 2017)
Malte Spielmann, Luis R Hernandez-Miranda, Isabella Ceccherini, Debra E Weese-Mayer, Bjørt K Kragesteen, Izabela Harabula, Peter Krawitz, Carmen Birchmeier, Norma Leonard, Stefan Mundlos

Original article:
Novel idiopathic DCM-related SCN5A variants localised in DI-S4 predispose electrical disorders by reducing peak sodium current density
(4 August, 2017)
Cheng Shen, Lei Xu, Shasha Han, Zhen Dong, Xiaona Zhao, Shaochun Wang, Sanli Qian, Bingyu Li, Xin Ma, Peng Wang, Hong Zhu, Yunzeng Zou, Zheng Fan, Junbo Ge, Aijun Sun

Original article: Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy (23 August, 2017)
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae-Min Kim, In-Hee Choi, Jin-Ho Choi, Sung-Chul Jung, Robert J Desnick, Han-Wook Yoo, Beom Hee Lee