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Integrated genomic characterization of endometrial carcinoma.

Publication ,  Journal Article
Cancer Genome Atlas Research Network, ; Kandoth, C; Schultz, N; Cherniack, AD; Akbani, R; Liu, Y; Shen, H; Robertson, AG; Pashtan, I; Shen, R ...
Published in: Nature
May 2, 2013

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 identified hotspot mutations in POLE. Our results classified endometrial cancers into four categories: POLE ultramutated, microsatellite instability hypermutated, copy-number low, and copy-number high. Uterine serous carcinomas share genomic features with ovarian serous and basal-like breast carcinomas. We demonstrated that the genomic features of endometrial carcinomas permit a reclassification that may affect post-surgical adjuvant treatment for women with aggressive tumours.

Duke Scholars

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Published In

Nature

DOI

EISSN

1476-4687

Publication Date

May 2, 2013

Volume

497

Issue

7447

Start / End Page

67 / 73

Location

England

Related Subject Headings

  • Transcription Factors
  • Signal Transduction
  • Poly-ADP-Ribose Binding Proteins
  • Ovarian Neoplasms
  • Humans
  • Genomics
  • Genome, Human
  • General Science & Technology
  • Gene Expression Regulation, Neoplastic
  • Female
 

Citation

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Cancer Genome Atlas Research Network, ., Kandoth, C., Schultz, N., Cherniack, A. D., Akbani, R., Liu, Y., … Levine, D. A. (2013). Integrated genomic characterization of endometrial carcinoma. Nature, 497(7447), 67–73. https://doi.org/10.1038/nature12113
Cancer Genome Atlas Research Network, Douglas A., Cyriac Kandoth, Nikolaus Schultz, Andrew D. Cherniack, Rehan Akbani, Yuexin Liu, Hui Shen, et al. “Integrated genomic characterization of endometrial carcinoma.Nature 497, no. 7447 (May 2, 2013): 67–73. https://doi.org/10.1038/nature12113.
Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, et al. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 May 2;497(7447):67–73.
Cancer Genome Atlas Research Network, Douglas A., et al. “Integrated genomic characterization of endometrial carcinoma.Nature, vol. 497, no. 7447, May 2013, pp. 67–73. Pubmed, doi:10.1038/nature12113.
Cancer Genome Atlas Research Network, Kandoth C, Schultz N, Cherniack AD, Akbani R, Liu Y, Shen H, Robertson AG, Pashtan I, Shen R, Benz CC, Yau C, Laird PW, Ding L, Zhang W, Mills GB, Kucherlapati R, Mardis ER, Levine DA. Integrated genomic characterization of endometrial carcinoma. Nature. 2013 May 2;497(7447):67–73.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

Publication Date

May 2, 2013

Volume

497

Issue

7447

Start / End Page

67 / 73

Location

England

Related Subject Headings

  • Transcription Factors
  • Signal Transduction
  • Poly-ADP-Ribose Binding Proteins
  • Ovarian Neoplasms
  • Humans
  • Genomics
  • Genome, Human
  • General Science & Technology
  • Gene Expression Regulation, Neoplastic
  • Female