Integrated genomic characterization of endometrial carcinoma

We performed an integrated genomic, transcriptomic and proteomic characterization of 373 endometrial carcinomas using array- and sequencing-based technologies. Uterine serous tumours and ∼25% of high-grade endometrioid tumours had extensive copy number alterations, few DNA methylation changes, low oestrogen receptor/progesterone receptor levels, and frequent TP53 mutations. Most endometrioid tumours had few copy number alterations or TP53 mutations, but frequent mutations in PTEN, CTNNB1, PIK3CA, ARID1A and KRAS and novel mutations in the SWI/SNF chromatin remodelling complex gene ARID5B. A subset of endometrioid tumours that we identified had a markedly increased transversion mutation frequency and newly…

• NI
  National Institutes of Health

  Awards: U54HG003067, 5U24CA143883, 5U24CA144025, 5U24CA143799, 5U24CA143867, U54HG003273, 5U24CA143866, U54HG003079, 5U24CA143835, 5U24CA143848, 5U24CA143858, 5U24CA143845, 5U24CA143840, 5U24CA143843, 5U24CA143882