Page 43 - 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 Not reported Benign Likely benign Not provided Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Pathogenic Not reported Benign Benign Not reported Uncertain significance Uncertain significance Uncertain significance Conflicting interpretations of pathogenicity Uncertain significance Likely benign Uncerta

dbSNP reference rs80358914 rs4986854 rs1799967 - rs80356860 rs191373374 rs1315262605 rs80356994 rs80357031 rs80357112 - rs114446594 rs55971303 - rs1408554738 rs11571743 rs2154576264 rs2138698697 rs2138698700 rs397507882 rs1263784177 - - rs80358051 rs80356964 - rs80358396

Consequence p.Glu2298Lys p.Met1628Thr p.Met1652Ile p.Arg1634Met p.Gly1706Ala p.Glu1725= p.Leu6Val p.Arg7Cys p.Ile15Leu p.Asp1778Asn p.Gly3086Arg p.Thr77= p.Pro142His - - - - - - - - Non coding - - p.Arg466Gly p.Lys222Asn p.Ala338Thr

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

Genetic variant c. 6892G > A c. 4883T > C c. 4956G > A c. 4901G > T c. 5117G > C c. 5175A > G c. 16C > G c. 19C > T c. 43A > C c. 5332G > A c. 9256G > A c. 231T > G c. 425C > A c. 794-5A > T c. 4185 + 47T > C c. 8487 + 19A > C c. 80 + 56A > C c. 67 + 14T > C c. 67 + 15T > C c. 68-16T > A c. 68-21T > G c. 5194-10C > A c. 475 + 25A > G c. 302-3C > T c. 1396C > G c. 666A > T c. 1012G > A

Exon Exon 12 Exon 16 Exon 16 Exon 16 Exon 18 Exon 19 Exon 2 Exon 2 Exon 2 Exon 21 Exon 24 Exon 3 Exon 6 Exon 9 Intron 11 Intron 19 Intron 2 Intron 2 Intron 2 Intron 2 Intron 2 intron 23 Intron 5 Intron 7 Exon 10 Exon 10 Exon 10

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

Year of publication 2012 2008 2008 2012 2008 2008 2012 2012 2012 2012 2012 2012 2008 2012 2012 2012 2012 2012 2012 2012 2012 2008 2012 2012 2012 2012 2012

Authors Cherbal et al. 20 Uhrhammer et al. 21 Uhrhammer et al. 21 Cherbal et al. 20 Uhrhammer et al. 21 Uhrhammer et al. 21 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al Cherbal et al. 20 Uhrhammer et al. 21 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Cherbal et al. 20 Uhrhammer et al. 21 Che

Table 2. (Continued) Country Region Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeria North Africa Algeri

Volume 9 Issue 1 (2025) 35 doi: 10.36922/ejmo.5800