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Table 4 BRCA1/2 reported pathogenic variants in the Moroccan population

From: Screening of BRCA1/2 genes mutations and copy number variations in patients with high risk for hereditary breast and ovarian cancer syndrome (HBOC)

Study

Number of cases

Reported variants

Methodology

Genetic variant

Consequence

Gene

Tazzite et al. [18] (Morocco)

40

c.5558dup

p.Tyr1853Ter

BRCA1

Full BRCA1/BRCA2 screening using Sanger

c.798799delTT

p.Ser267LysfsX1

BRCA1

c.2805delA

p.S896Vfs104

BRCA1

c.3279delC

p.Ile1859LysfsX3

BRCA1

c.5062 5064delGTT

p.Val1688del

BRCA1

c.3381delT

p.Phe1127LeufsX

BRCA2

c.7110delA

p.Lys2370fs

BRCA2

c.7235insG

p.Thr2412fsX2

BRCA2

c.7110delA

Lys2370fs

BRCA2

Laraqui et al. [9] (Morocco)

121

c.798799delTT

p.Ser267LysfsX1

BRCA1

Full BRCA1 gene sequencing using Sanger

c.1016dupA

p.Lys1698X

BRCA1

c.4942A > T

p.Lys1648X

BRCA1

c.5095C > T

p.Arg1699Trp

BRCA1

Laarabi et al. [39] (Morocco)

74

c.68_69delAG

p.Glu23fsX17

BRCA1

BRCA2

51 underwent sanger sequencing for exon 10 of BRCA2 gene. Full BRCA1/2 sequencing for 23

c.5073dupA

p.Trp1692Metfs

c.1310_1313delAAGA

p.Lys437IlefsX22

Jouali et al. [38] (Morocco)

15

c.2126insA

p.Phe709TyrfsX3

BRCA1

Full BRCA1/BRCA2 screening using next generation sequencing

c.7234_7235insG

p.Thr2412Serfs

BRCA2

c.3453delT

 

BRCA1

c.1310_1313delAAGA

p.Lys437IlefsX22

BRCA2

Our study

64

c.798_799delTT

p.Ser267LysfsX19

BRCA1

Full BRCA1/BRCA2 punctual variants and copy number variations screening using next generation sequencing

c.3279delC

p.Tyr1094IlefsX15

BRCA1

c.4823C > G

p.Ser1608Ter

BRCA1

c.1016dupA

p.Val340GlyfsX6

BRCA1

c.66_67delAG

p.Glu23fsX17

BRCA1

c.5158C > T

p.Arg1720TrpX

BRCA1

c.1302_1305delAAGA

p.Lys437fsX22

BRCA2

c.7110delA

p.Lys2370fsX

BRCA2

c.3847_3848delGT

P.Val1283fsX2

BRCA2

c.5576-5579delTTAA

p.I1859fsX3

BRCA2

c.7235_7236insG

p.Lys2413fsX

BRCA2

c.3860delA

p.Asn1287fsX6

BRCA2