germ-line mutation

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
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
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 Sep 2021, jmedgenet-2021-108054; DOI: 10.1136/jmedgenet-2021-108054
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 2021, 58 (9) 581-585; DOI: 10.1136/jmedgenet-2020-107087
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 Jul 2021, jmedgenet-2021-107742; DOI: 10.1136/jmedgenet-2021-107742
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 Apr 2021, jmedgenet-2020-107471; DOI: 10.1136/jmedgenet-2020-107471
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 Mar 2021, jmedgenet-2020-107594; DOI: 10.1136/jmedgenet-2020-107594
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 Apr 2021, 58 (4) 217-226; DOI: 10.1136/jmedgenet-2020-107399
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 Apr 2021, 58 (4) 234-236; DOI: 10.1136/jmedgenet-2020-107098

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