germ-line mutation

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
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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