germ-line mutation

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
Léa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, Pia Alhopuro, Patrick R Benusiglio, Franck Bourdeaut, Ines B Brecht, Giada Del Baldo, Sandeep Kumar Dhanda, Maria Luisa Garrè, Corrie E M Gidding, Steffen Hirsch, Pauline Hoarau, Mette Jorgensen, Christian Kratz, Lucie Lafay-Cousin, Angela Mastronuzzi, Lorenza Pastorino, Stefan M Pfister, Christopher Schroeder, Miriam Jane Smith, Pia Vahteristo, Roseline Vibert, Catheline Vilain, Nicolas Waespe, Ingrid M Winship, D Gareth Evans, Laurence Brugieres

Journal of Medical Genetics Jun 2022, jmedgenet-2021-108385; DOI: 10.1136/jmedgenet-2021-108385
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years
Alice Garrett, Sabrina Talukdar, Louise Izatt, Angela F Brady, Sinead Whyte, Katherine S Josephs, Monisha Shanmugasundaram, Li Shan Guillemot, Dara Vakili, Shevaun Ey, Munaza Ahmed

Journal of Medical Genetics Jun 2022, 59 (6) 554-558; DOI: 10.1136/jmedgenet-2021-107742
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
Bong Jik Kim, Hyoung Won Jeon, Woosung Jeon, Jin Hee Han, Jayoung Oh, Nayoung Yi, Min Young Kim, Minah Kim, Justin Namju Kim, Bo Hye Kim, Joon Young Hyon, Dongsup Kim, Ja-Won Koo, Doo-Yi Oh, Byung Yoon Choi

Journal of Medical Genetics May 2022, 59 (5) 470-480; DOI: 10.1136/jmedgenet-2020-107594
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
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell

Journal of Medical Genetics Apr 2022, jmedgenet-2021-108399; DOI: 10.1136/jmedgenet-2021-108399
Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
Daria Grafodatskaya, Darren D O’Rielly, Karine Bedard, Darci T Butcher, Christopher J Howlett, Alice Lytwyn, Elizabeth McCready, Jillian Parboosingh, Elizabeth L Spriggs, Andrea K Vaags, Tracy L Stockley

Journal of Medical Genetics Apr 2022, jmedgenet-2021-108238; DOI: 10.1136/jmedgenet-2021-108238
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, Genomics England Research Consortium, Jenny C Taylor

Journal of Medical Genetics Apr 2022, 59 (4) 366-369; DOI: 10.1136/jmedgenet-2020-107528
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
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer
José Marcos Moreno-Cabrera, Jesús del Valle, Lidia Feliubadaló, Marta Pineda, Sara González, Olga Campos, Raquel Cuesta, Joan Brunet, Eduard Serra, Gabriel Capellà, Bernat Gel, Conxi Lázaro

Journal of Medical Genetics Jan 2022, 59 (1) 75-78; DOI: 10.1136/jmedgenet-2020-107366
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

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