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Identification of Novel Functional Single Nucleotide Polymorphisms in the Brca1 Gene of Breast Cancer Patients Publisher



Miresmaeili M1 ; Nabiafjadi M2 ; Lagzian A3 ; Fathi Z4 ; Yazdanpour M5 ; Zalpoor H6 ; Yaghoubzadmaleki M9 ; Moeini AM10 ; Arman I11
Authors
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Authors Affiliations
  1. 1. Department of Biology, Science and Arts University, Yazd, Iran
  2. 2. Department of Biochemistry, Faculty of Biological Sciences, University of Tarbiat Modares, Tehran, Iran
  3. 3. Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran
  4. 4. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
  6. 6. Network of Immunity in Infection, Malignancy & amp
  7. 7. Autoimmunity (NIIMA), Universal Scientific Education & amp
  8. 8. Research Network (USERN), Tehran, Iran
  9. 9. Division of Biochemistry, Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
  10. 10. Department of Internal Medicine, Faculty of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran
  11. 11. Department of Molecular Biology and Genetics, Faculty of Sciences, Zonguldak Bulent Ecevit University, Zonguldak, Turkey

Source: Iranian Journal of Science Published:2024


Abstract

Breast cancer is the most common cancer in women, making for one-third of all malignancies in females. Between 40 and 45 percent of instances of hereditary breast cancer are caused by mutations in the breast and ovarian cancer susceptibility gene 1 (BRCA1). Breast cancer risk is raised by mutations in its Really Interesting New Gene (RING) and BRCA1 C-Terminal (BRCT) domains. Thus, the goal of this study was to identify new mutations in the BRCA1 gene's RING and BRCT domains. To examine BRCA1 mutation spectra, 107 patients were chosen who had a documented family history of ovarian or breast cancer. Direct DNA sequencing and single-stranded conformational polymorphism (PCR-SSCP), both based on the polymerase chain reaction, were used to screen for mutations in the RING and BRCT domains of the BRCA1 gene. In-silico analysis was used for the in-vitro research outcome. The study's findings indicated that the population carries several BRCA1 sequence variations, including C.55C > A, C.36A > T, C.60A > T, C.199G > C, C.164A > T, C.251A > G, C.4996T > G, C.5032A > T, C.5041A > G, and C.5291T > A. The Breast Cancer Information Core (BIC) searched and examined the mutations. Every mutation was a new mutation. Additionally, a bioinformatics investigation revealed that several variations had an impact on the pathogenicity and stability of the protein. After calculating the relative risk (RR) of research linked to danger, it was found that there was a strong correlation (RR = 1) between the newly discovered genetic mutations and an elevated risk of breast cancer. Our research emphasizes the value of mutation screening in cases of familial ovarian or breast cancer, as well as the possible ramifications of these results for genetic counseling and cancer prevention. © The Author(s), under exclusive licence to Shiraz University 2024.
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