Open Access

Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer

  • Authors:
    • Diana Liberata Esposito
    • Fabio Verginelli
    • Sonia Toracchio
    • Sandra Mammarella
    • Laura De Lellis
    • Cinzia Vanni
    • Antonio Russo
    • Renato Mariani-Costantini
    • Alessandro Cama
  • View Affiliations

  • Published online on: July 18, 2013     https://doi.org/10.3892/or.2013.2626
  • Pages: 1553-1560
  • Copyright: © Esposito et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

The insulin/insulin-like growth factor pathway is involved in breast and colorectal cancer (CRC) development. In the present study, we analyzed the coding region and short intron-exon borders of the insulin receptor substrate 1 and 2 (IRS‑1 and IRS‑2) genes in 12 cell lines derived from breast cancer (BC), 14 cell lines derived from CRC and 33 primary CRCs. The nucleotide variants identified in BC were 3 in IRS‑1, 1 of which (p.Arg267Cys) was novel and with a pathogenic potential as predicted by in silico analysis and 6 in IRS‑2. Twenty‑one variants in IRS‑1 and 18 in IRS‑2 were identified in the CRC samples. These included 11 novel IRS‑1 variants detected exclusively in CRCs, which included 5 missense (p.Pro559Leu, p.Gln655His, p.Asp1014Gly, p.Asp1181His and pPro1203Ser) with a pathogenic potential as predicted by in silico analysis, 2 frameshifts predicted to generate a truncated protein, 1 splice-site mutation and 3 silent variants. In the CRC samples we also identified 7 novel IRS‑2 variants, including 4 missense variants, which included 2 (p.Asp782Asn and p.Gly1230Ser) with a pathogenic potential as predicted by in silico analysis, 2 frame insertion mutations and 1 silent variant. Most of the novel IRS‑1 and IRS‑2 variants may be involved in the modulation of IRS-1 or IRS‑2 functions and could be relevant to breast and colorectal tumorigenesis.
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October 2013
Volume 30 Issue 4

Print ISSN: 1021-335X
Online ISSN:1791-2431

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Spandidos Publications style
Esposito DL, Verginelli F, Toracchio S, Mammarella S, De Lellis L, Vanni C, Russo A, Mariani-Costantini R and Cama A: Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer. Oncol Rep 30: 1553-1560, 2013
APA
Esposito, D.L., Verginelli, F., Toracchio, S., Mammarella, S., De Lellis, L., Vanni, C. ... Cama, A. (2013). Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer. Oncology Reports, 30, 1553-1560. https://doi.org/10.3892/or.2013.2626
MLA
Esposito, D. L., Verginelli, F., Toracchio, S., Mammarella, S., De Lellis, L., Vanni, C., Russo, A., Mariani-Costantini, R., Cama, A."Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer". Oncology Reports 30.4 (2013): 1553-1560.
Chicago
Esposito, D. L., Verginelli, F., Toracchio, S., Mammarella, S., De Lellis, L., Vanni, C., Russo, A., Mariani-Costantini, R., Cama, A."Novel insulin receptor substrate 1 and 2 variants in breast and colorectal cancer". Oncology Reports 30, no. 4 (2013): 1553-1560. https://doi.org/10.3892/or.2013.2626