Skip to main content

Advertisement

SpringerLink
Log in

Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer

  • Research Article
  • Published:
Clinical and Translational Oncology Aims and scope Submit manuscript

A Correction to this article was published on 20 May 2021

This article has been updated

Abstract

Background

About 5–10% of incidences of breast cancers have been reported as a result of germline mutations of BRCA genes. However, the mutational spectrum of BRCA1 and BRCA2 genes among breast cancer Saudi women patients is inadequate at present. Therefore, the present study aimed to report the specific germinal mutation of BRCA1 and BRCA2 in the entire coding regions, to investigate the prevalence rate of BRCA1 & BRCA2 mutations among Saudi women and the effect of these mutations, both benign and malignant tumors.

Methodology

A total of 270 tissue samples of benign and malignant breast tumors were collected from Saudi women patients, Riyadh, Saudi Arabia. Examination of BRCA1 and BRCA2 germline mutations was performed using heteroduplex DNA analysis (HDA) or single-stranded conformation analysis (SSCA). 177 breast cancer women with malignant tumors and 93 with benign tumors were enrolled in the study. A total of 62 out of 177 breast cancer patients carried a BRCA1 or BRCA2 mutation (54 BRCA1 and 8 BRCA2). The analysis was done using the Sanger sequence assay.

Results

Point and frameshift mutations through the entire coding area of the two genes indicated that all the mutations were germline alterations and of early-onset breast cancers. The mean ages of diagnosed breast cancer women for BRCA1 and BRCA2 mutation carriers were 36.3 (± 3.5) and 37.9 (± 3.7) years, whereas that of benign control was 35(± 2.5) years.

Conclusion

Point and frameshift mutations across the entire coding region of BRCA1 and BRCA2 are responsible for many breast cancers cases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4

Similar content being viewed by others

Change history

References

  1. Ferlay J, et al. Global cancer observatory: cancer today. Lyon, France: International Agency for Research on Cancer. 2018.

  2. Miki Y, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71.

    Article  CAS  Google Scholar 

  3. Abulkhair O, et al. Prevalence of BRCA1 and BRCA2 mutations among high-risk Saudi patients with breast cancer. J Global Oncol. 2018;3:1–9.

    Google Scholar 

  4. ALmutlaq BA, et al. Options in breast reconstruction and plastic surgery in regard to surgeon perceptions and patients acceptance in Saudi Arabia. J Mod Plast Surg. 2017;7:50–64.

    Article  Google Scholar 

  5. ALmutlaq BA, et al. The influence of women's positioning in breast measurements for subsequent breast plastic surgery. Am J Clin Med Res. 2018;6:10–14.

    Google Scholar 

  6. Almutlaq BA, et al. Breast cancer in Saudi Arabia and its possible risk factors. J Cancer Policy. 2017;12:83–9.

    Article  Google Scholar 

  7. Alrashidi AG, et al. Knowledge and perceptions of common breast cancer risk factors in Northern Saudi Arabia. Asian Pac J Cancer Prev. 2017;18:2755–62.

    PubMed  PubMed Central  Google Scholar 

  8. Othman A, et al. Knowledge, attitudes and practices of breast cancer screening among women in Jordan. Health Care Women Int. 2015;36:578–92.

    Article  Google Scholar 

  9. Fang M, et al. Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population. Oncol Lett. 2018;15:3068–74.

    Google Scholar 

  10. Larsen MJ, et al. Hereditary breast cancer: clinical, pathological and molecular characteristics. Breast Cancer: Basic Clin Res. 2014;8:145–55.

    CAS  Google Scholar 

  11. Blackwood MA, Barbara LW. BRCA1 and BRCA2: from molecular genetics to clinical medicine. J Clin Oncol. 1998;16:1969–77

    Article  CAS  Google Scholar 

  12. Torres D, et al. Prevalence and penetration of BRCA1 and BRCA2 germline mutationss in Colombian breast cancer patients. Sci Rep. 2018:7:1–9.

    Google Scholar 

  13. Ottini L, et al. BRCA1 and BRCA2 mutations status and tumor characteristics in male breast cancer: a population-based study in Italy. Cancer Res. 2003;63:342–7.

    CAS  PubMed  Google Scholar 

  14. Ediriweera DS, et al. Mapping the risk of snakebite in Sri Lanka-a national survey with geospatial analysis. PLoS Negl Trop Dis. 2016;10:1–14.

    Article  Google Scholar 

  15. Kumar D, et al. Quantification of DNA extracted from formalin fixed paraffin-embedded tissue comparison of three techniques: effect on PCR efficiency. J Clin Diagn Res. 2016;10:BC01–3.

    CAS  PubMed  PubMed Central  Google Scholar 

  16. Alcaide M, et al. A novel multiplex droplet digital pcr assay to identify and quantify KRAS mutations in clinical specimens. J Mol Diagn. 2019;21:214–27.

    Article  CAS  Google Scholar 

  17. Nataraj AJ, et al. Single‐strand conformation polymorphism and heteroduplex analysis for gel‐based mutation detection. Electrophoresis. 1999;20:1177–85.

    Article  CAS  Google Scholar 

  18. Suvarna KS, Christopher L, John DB, editors. Bancroft's theory and practice of histological techniques E-Book. Elsevier Health Sciences; 2018. p. 213–20.

  19. Tian H, Lawrence CB, James PL. Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary-and microchip-based electrophoresis. Genome Res. 2000;10:1403–13.

    Article  CAS  Google Scholar 

  20. Lancaster JM, et al. BRCA2 mutations in primary breast and ovarian cancers. Nat Genet. 1996;13:238–40.

    Article  CAS  Google Scholar 

  21. Apessos A, et al. Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center. Cancer Genet. 2018;220:1–12.

    Article  CAS  Google Scholar 

  22. Liu Y, et al. BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ. Mol Genet Genomic Med. 2019;7:e493.

    Article  Google Scholar 

  23. Bayraktar S, et al. Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. Cancer. 2012;118:1515–22.

    Article  CAS  Google Scholar 

  24. Abusanad A. BRCA testing dichotomy in Saudi Arabia. J Global Oncol. 2019;5:1–2.

    Article  Google Scholar 

  25. Comen E. et al. Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi Women. Breast Cancer Res Treat. 2011;129:185–90.

    Article  CAS  Google Scholar 

  26. Na B, et al. Therapeutic targeting of BRCA1 and TP53 mutant breast cancer through mutant p53 reactivation. NPJ Breast Cancer. 2019;5:1–10.

    Article  CAS  Google Scholar 

  27. Lara K, et al. BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biol Res. 2012;45:117–30.

    Article  Google Scholar 

  28. Suliman et al. Role of human PTEN and TP53 sequence mutations in the etiology of breast cancer in Saudi Patients. Pak J Biol Sci. 2020;9:321–30.

    Article  Google Scholar 

Download references

Acknowledgements

This research project was supported by a grant from the Deanship of Scientific Research, Princess Nourah Bint Abdul Rahman University (233-ص-38).

Author information

Authors and Affiliations

  1. Biology Department, College of Science, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia

    A. S. Algebaly, R. S. Suliman & W. S. Al-Qahtani

Authors
  1. A. S. Algebaly
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. S. Suliman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. S. Al-Qahtani
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

ASA: participated in the coordination of the study and acquisition and revised the manuscript. RSS: participated in the coordination of the practical work of the study and acquisition, collected the data and revised the manuscript. WSA: carried out the design of the study, collected the data, wrote, revised, and edited the manuscript text and was corresponding author for this study. All authors made a significant contribution to the work reported, read, revised and agreed to the final manuscript before submission.

Corresponding author

Correspondence to W. S. Al-Qahtani.

Ethics declarations

Conflict of interest

The authors declared that they have no competing interests.

Ethical approval

The ethical standards of the institutional research committee provided a framework for performing procedures on human participants in agreement with the 1964 Declaration of Helsinki and subsequent ethical frameworks. The Deanship of Scientific Research, Princess Nourah Bint Abdul Rahman University approved the study.

Informed consent

All human participants in the study provided informed consent.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

The original article was revised to correct the grant number in Acknowledgements.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Algebaly, A.S., Suliman, R.S. & Al-Qahtani, W.S. Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer. Clin Transl Oncol 23, 74–81 (2021). https://doi.org/10.1007/s12094-020-02385-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12094-020-02385-9

Keywords

Search

Navigation