ISSN 1662-4009 (online)

ey0018.3-1 | Mechanism of the year | ESPEYB18

3.1. Radiation-related genomic profile of papillary thyroid carcinoma after the Chernobyl accident

LM Morton , DM Karyadi , C Stewart , TI Bogdanova , ET Dawson , MK Steinberg , J Dai , SW Hartley , SJ Schonfeld , JN Sampson , YE Maruvka , V Kapoor , DA Ramsden , J Carvajal-Garcia , CM Perou , JS Parker , M Krznaric , M Yeager , JF Boland , A Hutchinson , BD Hicks , CL Dagnall , JM Gastier-Foster , J Bowen , O Lee , MJ Machiela , EK Cahoon , AV Brenner , K Mabuchi , V Drozdovitch , S Masiuk , M Chepurny , LY Zurnadzhy , M Hatch , A Berrington de Gonzalez , GA Thomas , MD Tronko , G Getz , SJ Chanock

Science. 2021;372(6543):eabg2538. doi: 10.1126/science.abg2538.Radioactive iodine (131I)-exposed children in the region of Chernobyl (Ukraine) showed an increased incidence of papillary thyroid carcinoma (PTC) after the 1986 nuclear plant accident [1]. This so far the largest and most comprehensive study to characterize the genomic landscape of radiation induced PTC in a large n...

ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747–757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...