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Genomic landscapes of breast fibroepithelial tumors.

Publication ,  Journal Article
Tan, J; Ong, CK; Lim, WK; Ng, CCY; Thike, AA; Ng, LM; Rajasegaran, V; Myint, SS; Nagarajan, S; Thangaraju, S; Dey, S; Nasir, NDM; Wijaya, GC ...
Published in: Nat Genet
November 2015

Breast fibroepithelial tumors comprise a heterogeneous spectrum of pathological entities, from benign fibroadenomas to malignant phyllodes tumors. Although MED12 mutations have been frequently found in fibroadenomas and phyllodes tumors, the landscapes of genetic alterations across the fibroepithelial tumor spectrum remain unclear. Here, by performing exome sequencing of 22 phyllodes tumors followed by targeted sequencing of 100 breast fibroepithelial tumors, we observed three distinct somatic mutation patterns. First, we frequently observed MED12 and RARA mutations in both fibroadenomas and phyllodes tumors, emphasizing the importance of these mutations in fibroepithelial tumorigenesis. Second, phyllodes tumors exhibited mutations in FLNA, SETD2 and KMT2D, suggesting a role in driving phyllodes tumor development. Third, borderline and malignant phyllodes tumors harbored additional mutations in cancer-associated genes. RARA mutations exhibited clustering in the portion of the gene encoding the ligand-binding domain, functionally suppressed RARA-mediated transcriptional activation and enhanced RARA interactions with transcriptional co-repressors. This study provides insights into the molecular pathogenesis of breast fibroepithelial tumors, with potential clinical implications.

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Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

November 2015

Volume

47

Issue

11

Start / End Page

1341 / 1345

Location

United States

Related Subject Headings

  • Young Adult
  • Retinoic Acid Receptor alpha
  • Receptors, Retinoic Acid
  • Phyllodes Tumor
  • Neoplasm Proteins
  • Mutation
  • Middle Aged
  • Mediator Complex
  • Loss of Heterozygosity
  • Immunohistochemistry
 

Citation

APA
Chicago
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MLA
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Tan, J., Ong, C. K., Lim, W. K., Ng, C. C. Y., Thike, A. A., Ng, L. M., … Teh, B. T. (2015). Genomic landscapes of breast fibroepithelial tumors. Nat Genet, 47(11), 1341–1345. https://doi.org/10.1038/ng.3409
Tan, Jing, Choon Kiat Ong, Weng Khong Lim, Cedric Chuan Young Ng, Aye Aye Thike, Ley Moy Ng, Vikneswari Rajasegaran, et al. “Genomic landscapes of breast fibroepithelial tumors.Nat Genet 47, no. 11 (November 2015): 1341–45. https://doi.org/10.1038/ng.3409.
Tan J, Ong CK, Lim WK, Ng CCY, Thike AA, Ng LM, et al. Genomic landscapes of breast fibroepithelial tumors. Nat Genet. 2015 Nov;47(11):1341–5.
Tan, Jing, et al. “Genomic landscapes of breast fibroepithelial tumors.Nat Genet, vol. 47, no. 11, Nov. 2015, pp. 1341–45. Pubmed, doi:10.1038/ng.3409.
Tan J, Ong CK, Lim WK, Ng CCY, Thike AA, Ng LM, Rajasegaran V, Myint SS, Nagarajan S, Thangaraju S, Dey S, Nasir NDM, Wijaya GC, Lim JQ, Huang D, Li Z, Wong BH, Chan JYS, McPherson JR, Cutcutache I, Poore G, Tay ST, Tan WJ, Putti TC, Ahmad BS, Iau P, Chan CW, Tang APH, Yong WS, Madhukumar P, Ho GH, Tan VKM, Wong CY, Hartman M, Ong KW, Tan BKT, Rozen SG, Tan P, Tan PH, Teh BT. Genomic landscapes of breast fibroepithelial tumors. Nat Genet. 2015 Nov;47(11):1341–1345.

Published In

Nat Genet

DOI

EISSN

1546-1718

Publication Date

November 2015

Volume

47

Issue

11

Start / End Page

1341 / 1345

Location

United States

Related Subject Headings

  • Young Adult
  • Retinoic Acid Receptor alpha
  • Receptors, Retinoic Acid
  • Phyllodes Tumor
  • Neoplasm Proteins
  • Mutation
  • Middle Aged
  • Mediator Complex
  • Loss of Heterozygosity
  • Immunohistochemistry