Page 31 - EJMO-9-1

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

(Cont'd...)

ClinVar classification Benign Benign Benign Benign Benign Benign Uncertain significance Benign Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Not reported Benign Conflicting interpretations of pathogenicity Uncertain significance Uncertain significance Uncertain significance Conflicting interpretations of pathogenicity Conflicting interpret

dbSNP reference rs56082113 rs1800704 rs41293485 rs35029074 rs4986860 rs28897744 rs1597830733 rs4987047 rs80359189 rs80359228 rs397508927 - rs80358479 rs80358444 rs80358462 - - rs1228972723 rs55639854 rs80358341 rs587782072 rs777028631 rs80358753

Consequence p.Lys820Glu p.Met1008Ile p.Cys1290Tyr p.Arg2108His p.His2440Arg p.Thr2515Ile p.Arg1634Gly p.Ile2944Phe p.Val3081Ala p.Lys3196Glu p.His662Tyr p.Ser220Phe p.Thr630Ile p.Thr525Ser p.Thr598Ile p.Glu717Lys p.Ala807Thr p.Asn1043Ser p.Asp1344Gly p.Asn1355del p.Glu1110Gly p.Gly1254Asp p.Tyr1762Ser

Table 2. Variants of unknown significance in BRCA1 and BRCA2 in the Middle East and North Africa region
Mutation type MS MS MS MS MS MS MS MS MS MS MS MS MS MS MS MS MS MS MS IFD MS MS MS

Genetic variant c. 2458A > G c. 3024G > A c. 3869G > A c. 6323G > A c. 7319A > G c. 7544C > T c. 4900A > G c. 8830A > T c. 9242T > C c. 9586A > G c. 1984C > T c. 659C > T c. 1889C > T c. 1573A > T c. 1793C > T c. 2149G > A c. 2419G > A c. 3128A > G c. 4031A > G c. 4063_ 4065delAAT c. 3329A > G c. 3762G > T c. 5285A > C

Exon Exon 11 Exon 11 Exon 11 Exon 11 Exon 14 Exon 15 Exon 16 Exon 22 Exon 24 Exon 26 Exon 10 Exon 10 Exon 10 Exon 10 Exon 10 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11

Gene BRCA1 BRCA1 BRCA2 BRCA2 BRCA2 BRCA2 BRCA1 BRCA2 BRCA2 BRCA2 BRCA1 BRCA1 BRCA2 BRCA2 BRCA2 BRCA1 BRCA1 BRCA1 BRCA1 BRCA1 BRCA2 BRCA2 BRCA2

Year of publication 2019 2019 2019 2019 2019 2019 2019 2019 2019 2019 2007 2017 2007 2017 2017 2017 2017 2017 2017 2017 2017 2017 2017

Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Al Hannan et al. 37 Loizidou et al. 43 Loizidou et al. 44 Loizidou et al. 43 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 Loizidou et al. 44 L

Authors

Country Bahrain Bahrain Bahrain Bahrain Bahrain Bahrain Bahrain Bahrain Bahrain Bahrain Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus Cyprus

Region Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East Middle East

Volume 9 Issue 1 (2025) 23 doi: 10.36922/ejmo.5800