genetic testing

Adopted individuals’ interest in elective genomic testing
Jessica Edgar, Annie Bao, Tara Maga, Marci Schwartz, Carin Yates, Sara Spencer

Journal of Medical Genetics Feb 2022, 59 (2) 197-203; DOI: 10.1136/jmedgenet-2020-107503
Assessment of mismatch repair deficiency in ovarian cancer
Emma J Crosbie, Neil A J Ryan, Rhona J McVey, Fiona Lalloo, Naomi Bowers, Kate Green, Emma R Woodward, Tara Clancy, James Bolton, Andrew J Wallace, Raymond F McMahon, D Gareth Evans

Journal of Medical Genetics Oct 2021, 58 (10) 687-691; DOI: 10.1136/jmedgenet-2020-107270
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma
Thomas P Potjer, Tara W J van der Grinten, Inge M M Lakeman, Sander H Bollen, Mar Rodríguez-Girondo, Mark M Iles, Jennifer H Barrett, Lambertus A Kiemeney, Nelleke A Gruis, Christi J van Asperen, Nienke van der Stoep

Journal of Medical Genetics Nov 2021, 58 (11) 760-766; DOI: 10.1136/jmedgenet-2020-107251
A germline 1;3 translocation disrupting the VHL gene: a novel genetic cause for von Hippel-Lindau
Christopher J Ricketts, Cathy D Vocke, Martin Lang, Xiongfong Chen, Yongmei Zhao, Bao Tran, Mayank Tandon, Laura S Schmidt, Mark W Ball, W Marston Linehan

Journal of Medical Genetics Jan 2022, 59 (1) 18-22; DOI: 10.1136/jmedgenet-2020-107308
Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19
Maia Leigh Norman, Janet Malcolmson, Susan Randall Armel, Brittany Gillies, Brian Ou, Emily Thain, Jeanna Marie McCuaig, Raymond H Kim

Journal of Medical Genetics Jan 2022, 59 (1) 23-27; DOI: 10.1136/jmedgenet-2020-107418
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
Jung Hee Kim, Man Jin Kim, Sung Hye Kong, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong

Journal of Medical Genetics Jan 2022, 59 (1) 56-64; DOI: 10.1136/jmedgenet-2020-107102
Blood functional assay for rapid clinical interpretation of germline TP53 variants
Sabine Raad, Marion Rolain, Sophie Coutant, Céline Derambure, Raphael Lanos, Françoise Charbonnier, Jacqueline Bou, Emilie Bouvignies, Gwendoline Lienard, Stéphanie Vasseur, Michael Farrell, Olivier Ingster, Stéphanie Baert Desurmont, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

Journal of Medical Genetics Dec 2021, 58 (12) 796-805; DOI: 10.1136/jmedgenet-2020-107059
Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy
Brandie Heald, Emma Keel, Jessica Marquard, Carol A Burke, Matthew F Kalady, James M Church, David Liska, Gautam Mankaney, Karen Hurley, Charis Eng

Journal of Medical Genetics Dec 2021, 58 (12) 807-814; DOI: 10.1136/jmedgenet-2020-107294
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Dec 2021, 58 (12) 850-852; DOI: 10.1136/jmedgenet-2020-107320
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Emma Tudini, Aimee L Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H Trainer, Katherine M Tucker, Gillian Mitchell, Paul A James, Robyn L Ward, Helen Mar Fan, Nicola K Poplawski, Amanda B Spurdle

Journal of Medical Genetics Dec 2021, 58 (12) 853-858; DOI: 10.1136/jmedgenet-2020-107140

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