Page 24 - EJMO-9-1

Eurasian Journal of Medicine
and Oncology

REVIEW ARTICLE
Variants of unknown significance in BRCA1

and BRCA2 among breast cancer patients in
Middle Eastern and North African populations: A

systematic review

1,2
Oubaida Elbiad * , Oumaima Mazour 1,3 , Khalid Ennibi 2 ,
Bouabid Badaoui 1 , and Abdelilah Laraqui 2
1 Department of Biology, Faculty of Science, Mohammed V University in Rabat, Rabat, Morocco
2 Center of Virology, Infectious, and Tropical Diseases, Mohammed V Military Teaching Hospital,
Rabat, Morocco
3 Laboratory of Agroresources, Biomolecules and Chemistry for Health Innovation, Faculty of Science
and Technology, University of Limoges, Limoges, France

Abstract

Breast cancer (BC) is a growing global health challenge, particularly in low- and middle-
income countries. Variants of unknown significance (VUS) in BC genes, BRCA1 and
BRCA2, complicate genetic counseling and treatment decisions, emphasizing the need
*Corresponding author: for reclassification. This systematic review aimed to determine the spectrum of VUS in
Oubaida Elbiad
(oubaida_elbiad@um5.ac.ma) BRCA1 and BRCA2 among BC patients from the Middle East and North Africa (MENA)
region and to evaluate the current understanding and potential reclassification of
Citation: Elbiad O, Mazour O,
Ennibi K, Badaoui B, Laraqui A. these variants. A comprehensive search was conducted across electronic databases,
Variants of unknown significance in including PubMed, Google Scholar, and Embase, for studies published up to early
BRCA1 and BRCA2 among breast 2024. The review followed Preferred Reporting Items for Systematic Reviews and Meta-
cancer patients in Middle Eastern
and North African populations: Analyses guidelines. Inclusion criteria encompassed studies conducted in the MENA
A systematic review. Eurasian J region that focused on BRCA1 and/or BRCA2 in BC and/or ovarian cancer, reported on
Med Oncol. 2025;9(1):16-45. VUS prevalence, and analyzed coding regions or known mutations. Data extraction
doi: 10.36922/ejmo.5800
was performed using a standardized form, and VUS was reviewed through multiple
Received: November 6, 2024 databases. The review identified 34 eligible studies, with a slight predominance of
Revised: December 2, 2024 Middle Eastern studies (n = 18) over North African (n = 16) studies. On reclassification
using the ClinVar database, 26% of the VUS were reclassified as benign or likely
Accepted: December 19, 2024
benign, 34.5% presented conflicting interpretations of pathogenicity, 2% were
Published online: February 4, reclassified as pathogenic or likely pathogenic, and 16.5% remained uncertain. The
2025 remaining variants were either not reported or lacked classification. The included
Copyright: © 2025 Author(s). studies covered multiple countries in the MENA region, providing insights into
This is an Open-Access article the prevalence and characteristics of BRCA1 and BRCA2 VUS in BC patients. The
distributed under the terms of the
Creative Commons Attribution continuous reclassification of VUS is essential for enhancing genetic counseling for
License, permitting distribution, BC patients, as it helps clarify the clinical implications of these variants. The findings
and reproduction in any medium, contribute to understanding the genetic factors in BC susceptibility and may inform
provided the original work is
properly cited. clinical practices in genetic counseling and risk assessment in this population.
Publisher’s Note: AccScience
Publishing remains neutral with Keywords: BRCA1; BRCA2; Variants of uncertain significance; Breast cancer; Middle East
regard to jurisdictional claims in
published maps and institutional and North Africa; Genetic susceptibility
affiliations

Volume 9 Issue 1 (2025) 16 doi: 10.36922/ejmo.5800