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Exome sequencing of liver fluke-associated cholangiocarcinoma.

Publication ,  Journal Article
Ong, CK; Subimerb, C; Pairojkul, C; Wongkham, S; Cutcutache, I; Yu, W; McPherson, JR; Allen, GE; Ng, CCY; Wong, BH; Myint, SS; Rajasegaran, V ...
Published in: Nat Genet
May 6, 2012

Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes using Sanger sequencing and selected 15 genes for mutation prevalence screening in an additional 46 individuals with CCA (cases). In addition to the known cancer-related genes TP53 (mutated in 44.4% of cases), KRAS (16.7%) and SMAD4 (16.7%), we identified somatic mutations in 10 newly implicated genes in 14.8-3.7% of cases. These included inactivating mutations in MLL3 (in 14.8% of cases), ROBO2 (9.3%), RNF43 (9.3%) and PEG3 (5.6%), and activating mutations in the GNAS oncogene (9.3%). These genes have functions that can be broadly grouped into three biological classes: (i) deactivation of histone modifiers, (ii) activation of G protein signaling and (iii) loss of genome stability. This study provides insight into the mutational landscape contributing to O. viverrini-related CCA.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 6, 2012

Volume

44

Issue

6

Start / End Page

690 / 693

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Receptors, Immunologic
  • Mutation
  • Middle Aged
  • Male
  • Loss of Heterozygosity
  • Humans
  • Female
  • Fascioliasis
  • Exome
 

Citation

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Chicago
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MLA
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Ong, C. K., Subimerb, C., Pairojkul, C., Wongkham, S., Cutcutache, I., Yu, W., … Teh, B. T. (2012). Exome sequencing of liver fluke-associated cholangiocarcinoma. Nat Genet, 44(6), 690–693. https://doi.org/10.1038/ng.2273
Ong, Choon Kiat, Chutima Subimerb, Chawalit Pairojkul, Sopit Wongkham, Ioana Cutcutache, Willie Yu, John R. McPherson, et al. “Exome sequencing of liver fluke-associated cholangiocarcinoma.Nat Genet 44, no. 6 (May 6, 2012): 690–93. https://doi.org/10.1038/ng.2273.
Ong CK, Subimerb C, Pairojkul C, Wongkham S, Cutcutache I, Yu W, et al. Exome sequencing of liver fluke-associated cholangiocarcinoma. Nat Genet. 2012 May 6;44(6):690–3.
Ong, Choon Kiat, et al. “Exome sequencing of liver fluke-associated cholangiocarcinoma.Nat Genet, vol. 44, no. 6, May 2012, pp. 690–93. Pubmed, doi:10.1038/ng.2273.
Ong CK, Subimerb C, Pairojkul C, Wongkham S, Cutcutache I, Yu W, McPherson JR, Allen GE, Ng CCY, Wong BH, Myint SS, Rajasegaran V, Heng HL, Gan A, Zang ZJ, Wu Y, Wu J, Lee MH, Huang D, Ong P, Chan-on W, Cao Y, Qian C-N, Lim KH, Ooi A, Dykema K, Furge K, Kukongviriyapan V, Sripa B, Wongkham C, Yongvanit P, Futreal PA, Bhudhisawasdi V, Rozen S, Tan P, Teh BT. Exome sequencing of liver fluke-associated cholangiocarcinoma. Nat Genet. 2012 May 6;44(6):690–693.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

May 6, 2012

Volume

44

Issue

6

Start / End Page

690 / 693

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Receptors, Immunologic
  • Mutation
  • Middle Aged
  • Male
  • Loss of Heterozygosity
  • Humans
  • Female
  • Fascioliasis
  • Exome