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Analysis of Rare Variant c.2395C>T (p.Arg799Trp) in Gene ERCC4 in Breast Cancer Patients from Bashkortostan

  • HUMAN GENETICS
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Abstract

The ERCC4/FANCQ gene is a potential candidate gene for susceptibility to hereditary breast cancer, being a participant of the Fanconi anemia (FA)/BRCA pathway required for DNA repair. ERCC4 encodes XPF endonuclease which mainly participates in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. Heterozygous mutations in ERCC4 have been identified in various cancers. In this study the heterozygous mutation c.2395C>T (p.Arg799Trp) in ERCC4 was found in a hereditary breast cancer patient using next-generation sequencing. Further screening for the ERCC4*p.Arg799Trp mutation in 966 breast cancer patients and 686 control individuals revealed heterozygous mutation carriers in both groups, but no statistically significant differences in the frequency of the mutant allele between the two samples were found. The results of our study suggest that the ERCC4*p.Arg799Trp mutation is not associated with high risk of breast cancer, although further studies are needed to evaluate the clinical significance of this mutation.

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Funding

This work was carried out as part of the state task of the Ministry of Education and Science of the Russian Federation (no. AAAA-A16-116020350032-1) with the support of the Russian Foundation of Basic Research no. 17-44-020498 r_а, 17-29-06014 ofi_m, and the Program for the Development of Bioresource Collections no. 007-030164/2, as well as with use of the equipment of the Biomika Shared Access Center and the Unique Scientific Complex KODINK.

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Authors and Affiliations

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

    M. A. Bermisheva, I. R. Gilyazova & 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. G. F. Zinnatullina
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  4. E. K. Khusnutdinova
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Correspondence to M. A. Bermisheva.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in a study involving people comply with the ethical standards of the institutional and/or national committee for research ethics and the 1964 Helsinki Declaration and its subsequent changes or comparable ethical standards. Informed consent from each of the participants in the studywas obtained.

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Translated by K. Lazarev

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Bermisheva, M.A., Gilyazova, I.R., Zinnatullina, G.F. et al. Analysis of Rare Variant c.2395C>T (p.Arg799Trp) in Gene ERCC4 in Breast Cancer Patients from Bashkortostan. Russ J Genet 56, 627–632 (2020). https://doi.org/10.1134/S1022795420050026

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