germ-line mutation

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 Feb 2021, jmedgenet-2020-107528; DOI: 10.1136/jmedgenet-2020-107528
Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
Mikey B Lebrett, Emma J Crosbie, Miriam J Smith, Emma R Woodward, D Gareth Evans, Philip A J Crosbie

Journal of Medical Genetics Jan 2021, jmedgenet-2020-107399; DOI: 10.1136/jmedgenet-2020-107399
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 Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
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 Dec 2020, jmedgenet-2020-107353; 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 Nov 2020, jmedgenet-2020-107366; 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 Oct 2020, jmedgenet-2020-107059; DOI: 10.1136/jmedgenet-2020-107059
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
Zerin Hyder, Adele Fairclough, Mike Groom, Joan Getty, Elizabeth Alexander, Elke M van Veen, Guy Makin, Chitra Sethuraman, Vivian Tang, D Gareth Evans, Eamonn R Maher, Emma R Woodward

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107087; DOI: 10.1136/jmedgenet-2020-107087
Loss-of-function variants in POT1 predispose to uveal melanoma
Vaishnavi Nathan, Jane M Palmer, Peter A Johansson, Hayley R Hamilton, Sunil K Warrier, William Glasson, Lindsay A McGrath, Vivian F S Kahl, Raja S Vasireddy, Hilda A Pickett, Kelly M Brooks, Antonia L Pritchard, Nicholas K Hayward

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107098; DOI: 10.1136/jmedgenet-2020-107098

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germ-line mutation