genetic carrier screening

Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing
Yifan Wang, Bryn Golesworthy, Adeline Cuggia, Celine Domecq, Prosanto Chaudhury, Jeffrey Barkun, Peter Metrakos, Jamil Asselah, Nathaniel Bouganim, Zu-Hua Gao, George Chong, William D Foulkes, George Zogopoulos

Journal of Medical Genetics Aug 2022, 59 (8) 793-800; DOI: 10.1136/jmedgenet-2021-108054
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease
Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong

Journal of Medical Genetics May 2022, 59 (5) 462-469; DOI: 10.1136/jmedgenet-2020-107649
High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers
Shivani Ashar, Anuja Lipsa, Nikhat Khan, Rajiv Sarin

Journal of Medical Genetics May 2022, 59 (5) 492-495; DOI: 10.1136/jmedgenet-2021-107731
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding

Journal of Medical Genetics Apr 2022, 59 (4) 370-376; DOI: 10.1136/jmedgenet-2020-107230
Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
Benjamin A Lerner, Rosa M Xicola, Nicolette J Rodriguez, Rachid Karam, Xavier Llor

Journal of Medical Genetics Jan 2022, jmedgenet-2021-108169; DOI: 10.1136/jmedgenet-2021-108169
Can population BRCA screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population
Zixin Qin, Cheong Nang Kuok, Hui Dong, Luhan Jiang, Li Zhang, Maoni Guo, Hio Kuan Leong, Lei Wang, Grace Meng, San Ming Wang

Journal of Medical Genetics Sep 2021, 58 (9) 587-591; DOI: 10.1136/jmedgenet-2020-107181

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genetic carrier screening