Page 32 - 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 Conflicting interpretations of pathogenicity Not reported Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain significance Uncertain significance Conflicting interpretations of pathogenicity Uncertain significance Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain sig

dbSNP reference rs1308950771 rs397507795 - rs431825360 rs80359800 - rs1566260078 rs1566261012 - rs786201560 rs397507568 rs397507615 - rs397509148 rs1566241833 - rs81002830 - - rs201865785 - - rs80356923 rs2137495145

Consequence p.Asn1784His p.Thr1887Met p.Ser2143Ile p.Asn2644Asp p.Ile2664Met p.Ala2770Gly p.Ile3171Lys p.Gln3262Pro p.Arg2824Lys p.Arg18Cys p.Arg3384Ter p.Thr64Ile p.Asn228Lys - - - - - - - - - p.Glu1214Ter p.Asn1098Tyr

Mutation type MS MS - MS MS MS MS MS MS MS NS MS MS IVS IVS IVS IVS IVS - IVS IVS IVS MS MS

Genetic variant c. 5350A > C c. 5660C > T c. 6427_ 6428delinsAT c. 7930A > G c. 7992T > G c. 8309C > G c. 9512T > A c. 9785A > C c. 8471G > A c. 52C > T c. 10150C > T c. 191C > T c. 684T > A c. 4185 + 3A > G c. 7436_11T > C c. 8332_7A > G c. 68-7T > A c. 9118_16T > C c. 10333A > G c. 425 + 36A > G c. 126_23C > A c. 681 + 43A > G c. 3640G > T c. 3292A > T

Exon Exon 11 Exon 11 Exon 11 Exon 17 Exon 18 Exon 18 Exon 19 Exon 19 Exon 19 Exon 2 Exon 27 Exon 3 Exon 9 Intron 12 Intron 14 Intron 18 Intron 2 Intron 25 Intron 27 Intron 4 Intron 5 Intron 8 Exon 11 Exon 11

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

Year of publication 2017 2017 2017 2017 2017 2017 2017 2017 2017 2017 2017 2017 2017 2007 2017 2017 2017 2007 2007 2007 2007 2007 2021 2021

Authors 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 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 Loizidou et al. 44 Loizidou et al. 43 Loizidou et al. 43 Loizidou et al. 43 Loizidou et al. 43 Loizidou

Table 2. (Continued) Country Region Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus Middle East Cyprus

Volume 9 Issue 1 (2025) 24 doi: 10.36922/ejmo.5800