Open Access

Relationship between MUTYH, OGG1 and BRCA1 mutations and mRNA expression in breast and ovarian cancer predisposition

  • Authors:
    • Carmelo Moscatello
    • Marta Di Nicola
    • Serena Veschi
    • Patrizia Di Gregorio
    • Ettore Cianchetti
    • Liborio Stuppia
    • Pasquale Battista
    • Alessandro Cama
    • Maria Cristina Curia
    • Gitana Maria Aceto
  • View Affiliations

  • Published online on: November 26, 2020     https://doi.org/10.3892/mco.2020.2177
  • Article Number: 15
  • Copyright: © Moscatello et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The aetiology of breast and ovarian cancer (BC/OC) is multi‑factorial. At present, the involvement of base excision repair (BER) glycosylases (MUTYH and OGG1) in BC/OC predisposition is controversial. The present study investigated whether germline mutation status and mRNA expression of two BER genes, MUTHY and OGG1, were correlated with BRCA1 in 59 patients with BC/OC and 50 matched population controls. In addition, to evaluate the relationship between MUTYH, OGG1 and BRCA1, their possible mutual modulation and correlation among mutational spectrum, gene expression and demographic characteristics were evaluated. The results identified 18 MUTYH and OGG1 variants, of which 4 were novel (2 MUTYH and 2 OGG1) in 44 of the 59 patients. In addition, two pathogenic mutations were identified: OGG1 p.Arg46Gln, detected in a patient with BC and a family history of cancer, and MUTYH p.Val234Gly in a patient with OC, also with a family history of cancer. A significant reduced transcript expression in MUTYH was observed (P=0.033) in cases, and in association with the presence of rare variants in the same gene (P=0.030). A significant correlation in the expression of the two BER genes was observed in cases (P=0.004), whereas OGG1 and BRCA1 was significantly correlated in cases (P=0.001) compared with controls (P=0.010). The results of the present study indicated that the relationship among mutational spectrum, gene expression and demographic characteristics may improve the genetic diagnosis and primary prevention of at‑risk individuals belonging to families with reduced mRNA expression, regardless of mutation presence.
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Spandidos Publications style
Moscatello C, Di Nicola M, Veschi S, Di Gregorio P, Cianchetti E, Stuppia L, Battista P, Cama A, Curia MC, Aceto GM, Aceto GM, et al: Relationship between <em>MUTYH</em>, <em>OGG1</em> and <em>BRCA1</em> mutations and mRNA expression in breast and ovarian cancer predisposition. Mol Clin Oncol 14: 15, 2021.
APA
Moscatello, C., Di Nicola, M., Veschi, S., Di Gregorio, P., Cianchetti, E., Stuppia, L. ... Aceto, G.M. (2021). Relationship between <em>MUTYH</em>, <em>OGG1</em> and <em>BRCA1</em> mutations and mRNA expression in breast and ovarian cancer predisposition. Molecular and Clinical Oncology, 14, 15. https://doi.org/10.3892/mco.2020.2177
MLA
Moscatello, C., Di Nicola, M., Veschi, S., Di Gregorio, P., Cianchetti, E., Stuppia, L., Battista, P., Cama, A., Curia, M. C., Aceto, G. M."Relationship between <em>MUTYH</em>, <em>OGG1</em> and <em>BRCA1</em> mutations and mRNA expression in breast and ovarian cancer predisposition". Molecular and Clinical Oncology 14.1 (2021): 15.
Chicago
Moscatello, C., Di Nicola, M., Veschi, S., Di Gregorio, P., Cianchetti, E., Stuppia, L., Battista, P., Cama, A., Curia, M. C., Aceto, G. M."Relationship between <em>MUTYH</em>, <em>OGG1</em> and <em>BRCA1</em> mutations and mRNA expression in breast and ovarian cancer predisposition". Molecular and Clinical Oncology 14, no. 1 (2021): 15. https://doi.org/10.3892/mco.2020.2177