RT Journal Article SR Electronic T1 Comprehensive somatic genome alterations of urachal carcinoma JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 572 OP 578 DO 10.1136/jmedgenet-2016-104390 VO 54 IS 8 A1 Seungchul Lee A1 Jingu Lee A1 Sung Hoon Sim A1 Yeonghun Lee A1 Kyung Chul Moon A1 Cheol Lee A1 Woong-Yang Park A1 Nayoung KD Kim A1 Se-Hoon Lee A1 Hyunju Lee YR 2017 UL http://jmg.bmj.com/content/54/8/572.abstract AB Background Urachal cancer is a rare cancer that develops in the urachus. Because of its rarity, standard treatment therapies for urachal cancer are not established, and chemotherapeutic regimens for bladder cancer have been unsuccessful for patients with urachal cancer. Hence, we aim to understand a systematic molecular characterisation of urachal cancer.Methods We identified somatic single-nucleotide variations (SNVs)/indels and somatic copy number aberrations (SCNAs) in the 17 patients by using whole-exome sequencing (WES) and OncoScan platform (Affymetrix) as follows: tumour-normal paired sequencing (WES, n=10), tumour-only sequencing (WES, n=1; targeted deep sequencing, n=16), and OncoScan (n=17).Results Our analyses identified 27 genes with somatic SNVs and indels, as well as six genes (APC, COL5A1, KIF26B, LRP1B, SMAD4 and TP53) that were recurrent in at least two patients. By analysing the SCNAs, we found that the extent of chromosomal amplification was highly associated with the patient's cancer stage. Interestingly, 35% (6/17) of the patients had focal DNA amplifications in fibroblast growth factor receptor family genes. The integration of somatic SNVs, indels and SCNAs revealed significant alterations in the mitogen-activated protein kinase signalling pathways.Conclusions Our genome-wide analysis of urachal cancer suggests that molecular characteristics may be important for the treatment of urachal cancer.