Page 47 - EJMO-9-1

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

ClinVar classification Benign Benign Likely benign Not provided Benign Not reported Not reported Not reported

dbSNP reference rs56121817 rs80358405 rs1593202517 rs2054671671 rs80357457 - - -

Consequence p.Pro3292Leu p.Thr3414Ala p.Thr3411= p.Gly98Ala p.Arg133Cys Non-coding - Non-coding

Mutation type MS MS S MS MS IVS - IVS

Genetic variant c. 9875C > T c. 10240A > G c. 10233A > G c. 293G > C c. 397C > T c. 442_58delT c. 548-12dupG c. 793 + 65_793 + 65delT Abbreviations: BRCA: Breast cancer gene; dbSNP: Single-nucleotide polymorphism database; IFD: In-frame deletion; IFID: In-frame insertion and deletion; IFS: In-frame substitution;

Exon Exon 27 Exon 27 Exon 27 Exon 5 Exon 6 Exon 8 Exon 9 Exon 9

Gene BRCA2 BRCA2 BRCA2 BRCA1 BRCA1 BRCA1 BRCA1 BRCA2

Year of publication 2015 2015 2015 2021 2021 2012 2015 2015

Authors Riahi et al. 26 Riahi et al. 26 Msolly and Kassab 28 Ben Ayed-Guerfali et al. 29 Ben Ayed-Guerfali et al. 29 Mahfoudh et al. 25 Msolly and Kassab 28 Riahi et al. 26 IVS: Intronic variant; MS: Missense; NS: Non-sense; S: Synonymous.

Table 2. (Continued) Country Region Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa

Volume 9 Issue 1 (2025) 39 doi: 10.36922/ejmo.5800