Page 35 - 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 Pathogenic Benign Uncertain significance Benign Not reported Not reported Not reported Benign Not reported Not reported Not reported Uncertain significance Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain significance Benign Uncertain significance Conflicting interpretations of pathogenicity Conflicting interpr

dbSNP reference rs80359136 rs80357446 rs28897701 rs587778115 rs56187033 - - - rs8176307 - - - rs80359110 rs80359128 rs1555288517 rs183557525 rs80356910 rs397509071 rs80356859 rs777796838 rs1369043501 rs80358446 rs2072424315 rs28897690 - rs80358482

Consequence p.Gln2925His p.Cys44Phe p.Ala75Pro p.Leu156Ile p.Tyr179Cys - - - p.Cys44Phe - - - p.Glu2850Lys p.Arg2896His IVS23 + 3A > G p.Ser36Tyr p.Pro568Leu p.Glu116Lys p.lle591Thr p.Val1176Ile p.Arg163Thr p.His543Asn p.Glu621Ser p.Val1378lle p.Ser573HisFsX p.Asp651Tyr

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

Genetic variant c. 8775G > C c. 131G > T c. 223G > C c. 466C > A c. 536A > G IVS10_34C > A IVS11 + 80delTTAA IVS12_120T > C c. 5406 + 68T > C c. 7976 + 49A > G IVS6 + 55G > A IVS6 + 14C > T c. 8548G > A c. 8687G > A c. 9117 + 3A > G c. 107C > A c. 1703C > T c. 346G > A c. 1772T > C c. 3526G > A c. 488G > C c. 1627C > A c. 1861_1863delinsAGC c. 4132G > A c. 1717_1717delT c. 1951G > T

Exon Exon 22 Exon 3 Exon 3 Exon 7 Exon 7 Intron 10 Intron 11 Intron 12 Intron 21 Exon 17 Intron 6 Intron 6 Exon 20 Exon 21 Exon 23 Exon 3 Exon 10 Exon 6 Exon 10 Exon 10 Exon 7 Exon 10 Exon 10 Exon 11 Exon? Exon 11

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

Year of publication 2017 2017 2017 2012 2017 2012 2012 2012 2012 2019 2012 2012 2019 2019 2019 2019 2015 2019 2015 2015 2019 2015 2015 2015 2019 2015

Authors Jalkh et al. 41 Jalkh et al. 41 Jalkh et al. 41 Jalkh et al. 39 Jalkh et al. 41 Jalkh et al. 39 Jalkh et al. 39 Jalkh et al. 39 Jalkh et al. 39 Chantal et al. 42 Jalkh et al. 39 Jalkh et al. 39 Chantal et al. 42 Chantal et al. 42 Chantal et al. 42 Chantal et al. 42 El Saghir et al. 40 Chantal et al. 42 El Saghir et al. 40 El Saghir et al. 40 Chantal et al. 42 El Saghir et al. 40 El Saghir et al. 40 El

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

Volume 9 Issue 1 (2025) 27 doi: 10.36922/ejmo.5800