genetic predisposition to disease

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component
Núria Catasús, Belen Garcia, Iván Galván-Femenía, Adrià Plana, Alejandro Negro, Inma Rosas, Andrea Ros, Emilio Amilibia, Juan Luis Becerra, Cristina Hostalot, Francesc Rocaribas, Isabel Bielsa, Conxi Lazaro Garcia, Rafael de Cid, Eduard Serra, Ignacio Blanco, Elisabeth Castellanos

Journal of Medical Genetics Jul 2022, 59 (7) 678-686; DOI: 10.1136/jmedgenet-2020-107548
Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1
Anne-Sophie Chong, Maria Apellaniz-Ruiz, Leanne de Kock, Dorothée Bouron-Dal Soglio, William R Doyle, John R Priest, Barbara Rivera, William D Foulkes

Journal of Medical Genetics Jul 2022, 59 (7) 723-726; DOI: 10.1136/jmedgenet-2021-107887
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
Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
Pei Sze Ng, Rick ACM Boonen, Eldarina Wijaya, Chan Eng Chong, Milan Sharma, Sabine Knaup, Shivaani Mariapun, Weang Kee Ho, Joanna Lim, Sook-Yee Yoon, Nur Aishah Mohd Taib, Mee Hoong See, Jingmei Li, Swee Ho Lim, Ern Yu Tan, Benita Kiat-Tee Tan, Su-Ming Tan, Veronique Kiat-Mien Tan, Rob Martinus van Dam, Kartini Rahmat, Cheng Har Yip, Sara Carvalho, Craig Luccarini, Caroline Baynes, Alison M Dunning, Antonis Antoniou, Haico van Attikum, Douglas F Easton, Mikael Hartman, Soo Hwang Teo

Journal of Medical Genetics May 2022, 59 (5) 481-491; DOI: 10.1136/jmedgenet-2020-107471
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers
D Gareth Evans, Fiona Lalloo, Neil AJ Ryan, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Rhona J McVey, Andrew J Wallace, Katy Newton, James Hill, Raymond McMahon, Emma J Crosbie

Journal of Medical Genetics Apr 2022, 59 (4) 328-334; DOI: 10.1136/jmedgenet-2020-107542
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
Lisa Golmard, Lauren M Vasta, Valérie Duflos, Carole Corsini, Catherine Dubois d'Enghien, Mary L McMaster, Laura A Harney, Ann G Carr, Alexander Ling, Frédérique Dijoud, Arnaud Gauthier, Markku Miettinen, Nicholas G Cost, Marion Gauthier-Villars, Daniel Orbach, Sabine Irtan, Stéphanie Haouy, Kris Ann Schultz, Dominique Stoppa-Lyonnet, Isabelle Coupier, Douglas R Stewart, Nicolas Sirvent

Journal of Medical Genetics Apr 2022, 59 (4) 346-350; DOI: 10.1136/jmedgenet-2020-107434
Genotype-phenotype correlation in clubfoot (talipes equinovarus)
Ewa Hordyjewska-Kowalczyk, Karol Nowosad, Aleksander Jamsheer, Przemko Tylzanowski

Journal of Medical Genetics Mar 2022, 59 (3) 209-219; DOI: 10.1136/jmedgenet-2021-108040
Comprehensive evaluation of BRCA1/2 variant interpretation ability among laboratories in China
Kang Shao, Ruixia Wang, Shoufang Qu, Wenxin Zhang, Ting Yu, Boyang Cao, Pingping Dai, Anna Zhu, Jianguang Zhang, Juan Wang, Lusheng Wang, Shida Zhu, Kui Wu, Xuexi Yang, Xiaoyan Chang, Fang Chen, Jie Huang

Journal of Medical Genetics Mar 2022, 59 (3) 230-236; DOI: 10.1136/jmedgenet-2020-107360
Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB
Jun Wei, Zhuqing Shi, Rong Na, W Kyle Resurreccion, Chi-Hsiung Wang, David Duggan, S Lilly Zheng, Peter J Hulick, Brian T Helfand, Jianfeng Xu

Journal of Medical Genetics Mar 2022, 59 (3) 243-247; DOI: 10.1136/jmedgenet-2020-107286
Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)
Jan Hauke, Philipp Harter, Corinna Ernst, Alexander Burges, Sandra Schmidt, Alexander Reuss, Julika Borde, Nikolaus De Gregorio, Dimo Dietrich, Ahmed El-Balat, Mohamad Kayali, Heidrun Gevensleben, Felix Hilpert, Janine Altmüller, André Heimbach, Werner Meier, Birgid Schoemig-Markiefka, Holger Thiele, Rainer Kimmig, Peter Nürnberg, Karin Kast, Lisa Richters, Jalid Sehouli, Rita K Schmutzler, Eric Hahnen

Journal of Medical Genetics Mar 2022, 59 (3) 248-252; DOI: 10.1136/jmedgenet-2020-107353

Main menu

genetic predisposition to disease

Pages

Log in using your username and password

Main menu

Log in using your username and password

You are here

genetic predisposition to disease

Pages