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Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.

Publication ,  Journal Article
Chan-On, W; Nairismägi, M-L; Ong, CK; Lim, WK; Dima, S; Pairojkul, C; Lim, KH; McPherson, JR; Cutcutache, I; Heng, HL; Ooi, L; Chung, A ...
Published in: Nat Genet
December 2013

The impact of different carcinogenic exposures on the specific patterns of somatic mutation in human tumors remains unclear. To address this issue, we profiled 209 cholangiocarcinomas (CCAs) from Asia and Europe, including 108 cases caused by infection with the liver fluke Opisthorchis viverrini and 101 cases caused by non-O. viverrini-related etiologies. Whole-exome sequencing (n = 15) and prevalence screening (n = 194) identified recurrent somatic mutations in BAP1 and ARID1A, neither of which, to our knowledge, has previously been reported to be mutated in CCA. Comparisons between intrahepatic O. viverrini-related and non-O. viverrini-related CCAs demonstrated statistically significant differences in mutation patterns: BAP1, IDH1 and IDH2 were more frequently mutated in non-O. viverrini CCAs, whereas TP53 mutations showed the reciprocal pattern. Functional studies demonstrated tumor suppressive functions for BAP1 and ARID1A, establishing the role of chromatin modulators in CCA pathogenesis. These findings indicate that different causative etiologies may induce distinct somatic alterations, even within the same tumor type.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

December 2013

Volume

45

Issue

12

Start / End Page

1474 / 1478

Location

United States

Related Subject Headings

  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Tumor Cells, Cultured
  • Sequence Analysis, DNA
  • Mutation
  • Male
  • Isocitrate Dehydrogenase
  • Humans
  • Genetic Predisposition to Disease
  • Gene Frequency
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Chan-On, W., Nairismägi, M.-L., Ong, C. K., Lim, W. K., Dima, S., Pairojkul, C., … Teh, B. T. (2013). Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nat Genet, 45(12), 1474–1478. https://doi.org/10.1038/ng.2806
Chan-On, Waraporn, Maarja-Liisa Nairismägi, Choon Kiat Ong, Weng Khong Lim, Simona Dima, Chawalit Pairojkul, Kiat Hon Lim, et al. “Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.Nat Genet 45, no. 12 (December 2013): 1474–78. https://doi.org/10.1038/ng.2806.
Chan-On W, Nairismägi M-L, Ong CK, Lim WK, Dima S, Pairojkul C, et al. Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nat Genet. 2013 Dec;45(12):1474–8.
Chan-On, Waraporn, et al. “Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers.Nat Genet, vol. 45, no. 12, Dec. 2013, pp. 1474–78. Pubmed, doi:10.1038/ng.2806.
Chan-On W, Nairismägi M-L, Ong CK, Lim WK, Dima S, Pairojkul C, Lim KH, McPherson JR, Cutcutache I, Heng HL, Ooi L, Chung A, Chow P, Cheow PC, Lee SY, Choo SP, Tan IBH, Duda D, Nastase A, Myint SS, Wong BH, Gan A, Rajasegaran V, Ng CCY, Nagarajan S, Jusakul A, Zhang S, Vohra P, Yu W, Huang D, Sithithaworn P, Yongvanit P, Wongkham S, Khuntikeo N, Bhudhisawasdi V, Popescu I, Rozen SG, Tan P, Teh BT. Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nat Genet. 2013 Dec;45(12):1474–1478.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

December 2013

Volume

45

Issue

12

Start / End Page

1474 / 1478

Location

United States

Related Subject Headings

  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Tumor Cells, Cultured
  • Sequence Analysis, DNA
  • Mutation
  • Male
  • Isocitrate Dehydrogenase
  • Humans
  • Genetic Predisposition to Disease
  • Gene Frequency