Page 36 - EJMO-9-1

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

(Cont'd...)

ClinVar classification Not reported Conflicting interpretations of pathogenicity Uncertain significance Benign Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain significance Benign Uncertain significance pathogenic/likely pathogenic Uncertain significance Conflicting interpretations of pathogenicity Uncertain significance Conflicting int

dbSNP reference rs2137493515 - rs863224826 rs55794205 rs80358782 rs80358887 rs2072563704 rs80358963 rs28897695 rs876658624 rs80359082 rs80359086 rs276174926 rs1064794491 rs397507768 rs587781513 rs80356867 - rs28897727 - -

Consequence p.Cys1044Phe p.Ser1248Asn p.Glu1482_ Thr1483dup p.Arg2108Cys p.Ser1871Asn p.Gln2184Glu p.Asp2242Glu p.Lys2472Arg p.Phe1662Ser p.Ala2557Thr p.Gly2793Arg p.Pro2800Thr p.Ala3205Leu p.Gly3210Ser p.Gly173Cys p.Thr251Arg p.Asp1123Tyr Phe480Leu Asp1420Tyr - -

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

Genetic variant c. 3131G > T c. 3743G > A c. 4446_4451dup c. 6322C > T c. 5612G > A c. 6550C > G c. 6726T > A c. 7415A > G c. 4985T > C c. 7669G > A c. 8377G > A c. 8398C > A c. 9613_9614delinsCT c. 9628G > A c. 517G > T c. 752C > G c. 3367G > T c. 1575C > T c. 4258G > T c.*1286C > A 4185 + 22_4185 + 23insTG

Exon Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 11 Exon 14 Exon 15 Exon 16 Exon 19 Exon 19 Exon 26 Exon 26 Exon 7 Exon 9 Exon? Exon 11 Exon 11 3’UTR Exon ?

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

Year of publication 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2015 2002 2002 2018 2018

Authors El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El Saghir et al. 40 El-Harith et al. 50 El-Harith et al. 50 Abulkhair et al. 36 Abulkhair

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 Saudi Middle East Arabia Saudi Middle East Ar

Volume 9 Issue 1 (2025) 28 doi: 10.36922/ejmo.5800