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

• Published in: Russian journal of genetics Vol. 56; no. 5; pp. 627 - 632
• Main Authors: Bermisheva, M. A., Gilyazova, I. R., Zinnatullina, G. F., Khusnutdinova, E. K.
• Format: Journal Article
• Language: English
• Published: Moscow Pleiades Publishing 01.05.2020
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Human Genetics; Microbial Genetics and Genomics; hereditary breast cancer; Fanconi anemia; gene; genetic predisposition; xeroderma pigmentosum; /; mutation c.2395C>T (p.Arg799Trp)
• ISSN: 1022-7954; 1608-3369
• DOI: 10.1134/S1022795420050026

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.