Page 46 - EJMO-9-1

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

(Cont'd...)

ClinVar classification Conflicting interpretations of pathogenicity Benign Benign Benign Benign Not reported Benign/Likely benign Benign Benign Likely benign Not reported Not reported Likely benign Benign Benign Conflicting interpretations of pathogenicity Benign Conflicting interpretations of pathogenicity Benign Not reported Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Beni

dbSNP reference rs80356944 rs4986852 rs55906931 rs766173 rs11571642 - rs140674819 rs56012641 rs56082113 rs1800063 - - rs876660048 rs543304 rs4987117 rs56072130 rs1799954 rs397507308 rs55815649 - rs80357465 rs55689095 rs11571744 rs80359078 rs4987047 rs730881456

Consequence p.Thr1196Ile p.Ser1040Asn p.Phe486Leu p.Asn289His p.Asp596 p.Asn372 p.Ser843= p.Asn550His p.Lys820Glu p.Thr327= - - p.Pro1010Pro p.Val1269 p.Thr1915Met p.Ile1583Val p.Arg2034Ser p.Thr1141Ile p.Val1534Met - p.Met1628Val p.Glu2571Gly Non-coding p.Arg2787His p.Ile2944Phe p.Val1804

Mutation type MS MS MS MS S - MS MS MS S - MS S S MS MS MS MS MS MS MS MS IVS MS MS S

Genetic variant c. 3587C > T c. 3119G > A c. 1456T > C c. 865A > C c. 1788T > C c. 1114C > A c. 2529C > T c. 1648A > C c. 2458A > G c. 981A > C c. 2341T > C c. 3548C > T c. 3030T > G c. 3807T > C c. 5744C > T c. 4747A > G c. 6100C > T c. 3422C > T c. 4600G > A c. 4538G > A c. 4882A > G c. 7712A > G c. 8487 + 47C > T c. 8360G > A c. 8830A > T c. 5412C > T

Exon Exon 10 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 Exon 11 Exon 11 Exon 11 Exon 11 Exon 14 Exon 14 Exon 16 Exon 16 Exon 19 Exon 19 Exon 22 Exon 23

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

Year of publication 2015 2015 2015 2007 2015 2015 2007 2007 2015 2015 2015 2012 2014 2015 2015 2015 2015 2021 2007 2007 2007 2021 2015 2015 2015 2015

Authors Riahi et al. 26 Msolly and Kassab 28 Msolly and Kassab 28 Troudi et al. 23 Msolly and Kassab 28 Msolly and Kassab 28 Troudi et al. 23 Troudi et al. 23 Riahi et al. 26 Msolly and Kassab 28 Msolly and Kassab 28 Mahfoudh et al. 25 Fourati et al. 27 Msolly and Kassab 28 Msolly and Kassab 28 Msolly and Kassab 28 Msolly and Kassab 28 Hamdi et al. 30 Troudi et al. 23 Troudi et al. 23 Troudi et al. 23 Ben Ayed-Guerfali e

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 Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisia North Africa Tunisi

Volume 9 Issue 1 (2025) 38 doi: 10.36922/ejmo.5800