Page 30 - EJMO-9-1

Eurasian Journal of Medicine and
Oncology
BRCA VUS in breast cancer in MENA region

Figure 2. Flowchart illustrating the identification of BRCA gene variants of unknown significance in Middle Eastern and North African populations
Abbreviations: BRCA: Breast cancer gene; VUS: Variants of unknown significance.

Figure 4. Visual distribution of variants of unknown significance (VUS)
Figure 3. Distribution of distinct variants of unknown significance in BRCA1 and BRCA2 from the Middle East and North Africa region,
in BRCA1 and BRCA2 among Middle Eastern and North African based on their latest Clinvar reclassification
populations, categorized by mutation type
Abbreviations: IFD: In-frame deletions; IFID: In-frame insertion-deletion; reflecting an encouraging trend in understanding their
IFS: In-frame substitution; IVS: Intronic variants; MS: Missense;
NA: Not admitted; NS: Nonsense; S: Synonymous; UTR: Untranslated clinical implications. However, 34.8% still presented
region. conflicting interpretations of pathogenicity, highlighting
the complexity and challenges in defining their roles.
distribution of distinct BRCA1 and BRCA2 VUS from the Meanwhile, 14.5% of the variants were not reported in
MENA region according to their mutation type. ClinVar, and 2.1% were reported but have not yet been
classified, indicating areas that require further research.
3.5. Reclassification of VUS in BRCA A total of 16.1% remain classified as VUS, while only a
On further investigation and reclassification using small proportion (2.1%) have been conclusively reclassified
ClinVar database, we found that 30.4% of the 385 distinct as pathogenic or likely pathogenic. This distribution
BRCA VUS were reclassified as benign or likely benign, underscores the critical need for ongoing research and

Volume 9 Issue 1 (2025) 22 doi: 10.36922/ejmo.5800