Skip to main content

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