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

A Correction to this article was published on 20 May 2021

This article has been updated



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.


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.


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.


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

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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




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.

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The authors declared that they have no competing interests.

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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.

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All human participants in the study provided informed consent.

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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).

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  • Breast cancer
  • Germline mutations
  • Riyadh
  • Heteroduplex DNA analysis
  • Sanger sequencing
  • BRCA1
  • BRCA2
  • Novel mutations