Page 38 - 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 Not reported Not reported Benign Not reported Conflicting interpretations of pathogenicity Benign Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Conflicting interpretations of pathogenicity Uncertain significance Conflicting interpretations of pathogenicity Uncertain signifi

dbSNP reference rs81002804 - - rs183623188 - rs55975699 rs80358336 rs547590567 rs28897724 rs80358755 rs397507926 rs80359059 rs373945846 rs2072823455 rs876660484 rs80357333 rs80357374 rs876660434 rs876660885 rs397508970

Consequence - - - - - p.Asp232Tyr p.Glu1115del p.Leu428Val p.Leu1356Phe p.Gly1771Val p.Gly2544Asp p.Gln2714Arg p.Val387Ala p.Ala2825Val p.Asp224Asn p.Ala524Val p.Thr539Met p.Ser573Leu p.Val802Leu p.Glu827Asp

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

Genetic variant c. 517_4C > G c. 305 + 55G > A 301 + 55G > A c. 7976 + 23C > T IVS20 + 2T > C c. 694G > T c. 3344_3346delAAG c. 1282C > G c. 4068G > T c. 5312G > T c. 7631G > A c. 8141A > G c. 1160T > C c. 8474C > T c. 670G > A c. 1571C > T c. 1616C > T c. 1718C > T c. 2404G > C c. 2481A > C

Exon intron 6 Intron? intron? intron? intron? Exon 10 Exon 10 Exon 10 Exon 11 Exon 11 Exon 16 Exon 18 Exon 10 Exon 19 Exon 8 Exon 10 Exon 10 Exon 10 Exon 10 Exon 10

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

Year of publication 2018 2018 2018 2018 2018 2021 2019 2019 2019 2019 2019 2019 2021 2021 2021 2020 2020 2020 2020 2020

Abulkhair et al. 36 Abulkhair et al. 36 Abulkhair et al. 36 Abulkhair et al. 36 Abulkhair et al. 36 Duzkale and Teker. 48 Cecener et al. 45 Cecener et al. 45 Cecener et al. 45 Cecener et al. 45 Cecener et al. 45 Cecener et al. 45 Duzkale and Teker. 48 Duzkale and Teker. 48 Duzkale and Teker. 48 Bahsi and Erdem 46 Bahsi and Erdem 46 Bahsi and Erdem 46 Bahsi and Erdem 46 Bahsi and Erdem 46

Authors

Table 2. (Continued) Country Region Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Saudi Middle East Arabia Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey Middle East Turkey

Volume 9 Issue 1 (2025) 30 doi: 10.36922/ejmo.5800