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A WRN Nonsense Mutation, p.R1406X, is Not a Risk Factor of Breast Cancer

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Abstract

WRN/RECQL2 plays a crucial role in DNA replication and the maintenance of genome stability. Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal recessive chromosomal disorder characterized by premature aging and associated with genetic instability and increased cancer risk. Whether heterozygous WRN mutations are associated with breast cancer risk has been a matter for debate. In the present study, we identified p.R1406X in the WRN gene in one family case with breast/ovarian cancer using whole exome sequencing. We have investigated the prevalence of this WRN mutation in a total of 828 breast cancer cases, 273 ovarian cancer cases and 445 controls from Bashkortostan Republic (Russia). Our results suggest that the p.R1406X mutation in the WRN gene is not associated with high breast cancer risk.

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Funding

This work was supported by the Russian Foundation for Basic Research (grant 17-44-020498, 17-29-06014) and the Federal Agency for Scientific Organizations program for support the bioresource collections (no. 007-030164/2).

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Authors and Affiliations

  1. Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, 450054, Ufa, Russia

    M. A. Bermisheva, I. R. Gilyazova, L. Z. Akhmadishina, G. F. Gimalova & E. K. Khusnutdinova

  2. Republic Clinical Oncological Center of Bashkortostan Republic, 450054, Ufa, Russia

    G. F. Zinnatullina

Authors
  1. M. A. Bermisheva
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  2. I. R. Gilyazova
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  3. L. Z. Akhmadishina
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  4. G. F. Gimalova
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  5. G. F. Zinnatullina
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  6. E. K. Khusnutdinova
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Correspondence to M. A. Bermisheva.

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Conflict of interests. The authors declare that they have no conflict of interest.

Statement of compliance with standards of research involving humans as subjects. Our study was carried out with informed consent of the probands and was approved by Local Ethical Committee at the IBG.

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Bermisheva, M.A., Gilyazova, I.R., Akhmadishina, L.Z. et al. A WRN Nonsense Mutation, p.R1406X, is Not a Risk Factor of Breast Cancer. Russ J Genet 55, 899–903 (2019). https://doi.org/10.1134/S1022795419070056

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  • DOI: https://doi.org/10.1134/S1022795419070056

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