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Table 3 Published studies from MENA region analyzing BRCA mutations in early onset breast cancer

From: Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

Study No. patients Family history BRCA Analyzed
regions
Screening method BRCA mutation rate, Notes
Morocco
 Tazzite et al. [16] 4 SBC BRCA1/2 Direct sequencing 25%
 Laraqui et al. [17] 102 SBC BRCA1 Direct sequencing 1%
 Tazzite et al. [18] 28 Unknown FHa BRCA1 (Ex2, 11a, and 11b) Direct sequencing 12.2% b
 Jouali et al. [19] 15 FBC BRCA1/2 NGS, direct sequencing 26.7%
 The present study 33 Unselected BC BRCA1/2 NGS BC (≤40 y), unselected: 15.1%
FBC (≤40 y): 16.7%
SBC (≤40 y): 15.4%
BC (≤35 y): 23.5%
BC (36–40 y): 6.2%
Algeria
 Uhrhammer et al. [20] 51 SBC BRCA1 Direct sequencing, MLPA 9.8%
 Cherbal et al. [21] 52 FBC BRCA1/2 HRM, Direct sequencing, MLPA 13.5%
 Henouda et al. [13] 40 Unselected BC BRCA1/2 Direct sequencing, MLPA 20%
Tunisia
 Mahfoudh et al. [22] 7 FBC BRCA1 Direct sequencing 42.9%
 Riahi et al. [23] 4 FBC BRCA1/2 Direct sequencing 0%
Egypt
 Ibrahim et al. [24] 39
15
FBC
SBC
BRCA1/2 SSCP (BRCA1: Ex2, 8, 13, 22; BRCA2: Ex9) Heteroduplex, direct sequencing FBC (≤45 y): 89.7%
Lebanon
 El Saghir et al. [12] 148
102
Unselected BC
FBC
BRCA/2 Direct sequencing, MLPA BC (≤40 y), unselected: 6%
FBC (≤40 y): 10.8%
SBC (≤40 y): 1.4%
FBC (41–50 y): 5.3%
FBC (> 50 y): 3.7%
Iran
 Yassaee et al. [25] 83 Unselected BC BRCA1 (Ex2,3,5,11, 13 and 20) BRCA2 (Ex9,10,11, 17,18 and 23) PTT, SSCP 6.02%
FBC: 28.6%
SBC: 1.5%
 Pietschmann et al. [26] 41 FBC BRCA1/2 Direct sequencing, Semi-quantitative multiplex PCR (BRCA1) 9.8%
LR: 0%
 Keshavarzi et al. [27] 49
36
SBC
FBC
BRCA1/2 (Except BRCA1:Ex1 and 4; and BRCA2:
Ex1)
Direct sequencing Global mutation rate: 11.8%
 Yassaee et al. [28] 254 FBC BRCA1/2 SSCP, PPT, MLPA, and direct sequencing Global mutation rate: 18%
MS: 39.1%
Indels: 15.2%
LR: 6%
 Ebrahimi et al. [15] NA Unselected BC BRCA1/2 NGS 0%
Jordan
 Abdel-Razeq et al. [14] 51 Unselected BC BRCA1/2 Comprehensive BRAC Analysis®
and BRAC Analysis® Rearrangement Test (BART)
Global mutation rate: 26%
FBC: 32.5%
SBC: 0%
TN: 50%
Syria
 Khalil et al. [29] 32
18
FBC
SBC
BRCA1 (Ex2)
BRCA2 (Ex11)
Direct sequencing 15.6%
0%
No association between age (≤40 y) and exon 11 mutations
Palestine
 Hamameh et al. [30] 79
186
FBC
SBC
BRCA1/2 NGS 16.5%
2.7%
Saudi Arabia
 Alhuqail et al. [31] 108 Unselected BC BRCA1/2 NGS 8.3%
No correlation between age and mutation status
 Abulkhair et al. [32] 66 FBC BRCA1/2 NGS
MLPA
BRCA1: 9.3%
No association between age and mutation status
  1. a: Authors assumed that these cases cannot be precisely defined as sporadic, and were most likely correlated with a family history; b: This mutation rate included also FBC cases
  2. Abbreviations: BC Breast Cancer, Ex Exon, FBC Familial Breast Cancer, HRM High Resolution Melting, LR Large Rearrangement, MLPA Multiplex Ligation-dependent Probe Amplification, MS Missense Mutations, NA Not Available, NGS Next generation Sequencing, PPT Protein Truncation Test, SBC Sporadic Breast Cancer, SSCP Single Strand Conformation Polymorphism