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Table 2 List of pathogenic and likely pathogenic BRCA1 and BRCA2 genes variants found in Mauritanian hereditary BC patients

From: Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Gene

Chromosome position

Mutation type

Database ID

Gene location

nucleotide change

protein change

Clinicalsignificance

Number of carriers

BRCA1

chr17:41222939–41,222,939

Intron

rs80358086

Intronic

c.4986 + 6 T > C

 

pathogenic

7

BRCA1

chr17:41276061–41,276,061

Missense

rs80356929

Exon2

c.53 T > C

p.Met18Thr

likely_pathogenic

1

BRCA1

chr17:41267755–41,267,755

Missense

rs80357276

Exon 3

c.122A > T

p.His41Leu

likely_pathogenic

1

BRCA2

chr13:32893402–32,893,402

frameshift

Unreported

Exon 3

c.256del

p.Leu86Ter

Pathogenic

1

BRCA2

chr13:32911384–32,911,385

frameshift

Unreported

Exon 3

c.2892_2893insC

p.Met965HisfsTer17

Pathogenic

1

BRCA2

chr13:32914767–32,914,773

frameshift

rs80359572

Exon 3

c.6280_6286del

p.Tyr2094LeufsTer23

pathogenic

2

BRCA2

chr13:32929224–32,929,225

frameshift

rs397507906

Exon 3

c.7234_7235insG

p.Thr2412SerfsTer2

pathogenic

4

BRCA2

chr13:32953609–32,953,609

stop_gained

rs886040799

Exon 3

c.8910G > A

p.Trp2970Ter

pathogenic

1

BRCA2

chr13:32953902–32,953,902

stop_gained

rs80359148

Exon 3

c.8969G > A

p.Trp2990Ter

pathogenic

1

BRCA1

chr17:41267746–41,267,746

Missense

See in ClinVar

Exon 4

c.131G > C

p.Cys44Ser

Pathogenic

1

BRCA1

chr17:41215374–41,215,374

frameshift

rs80357553

Exon 4

c.5169del

p.Glu1725LysfsTer5

Pathogenic

1

BRCA1

chr17:41244539–41,244,540

frameshift

rs80357617

Exon4

c.3008_3009del

p.Phe1003Ter

pathogenic

1

BRCA1

chr17:41246734–41,246,735

stop_gained

Unreported

Exon 4

c.813_814insTAGCCATGTG

p.Glu272Ter

Pathogenic

1

BRCA1

chr17:41246723–41,246,724

frameshift

rs387906563

Exon 10

c.815_824dup

p.Thr276Alafs*14

pathogenic

13

BRCA2

chr13:32914292–32,914,292

stop_gained

rs886040610

Exon 11

c.5800C > T

p.Gln1934Ter

pathogenic

1

BRCA2

chr13:32914617–32,914,617

Missense

rs80358852

Exon 11

c.6125A > G

p.Gln2042Arg

Conflicting of pathogenicity

1

  1. *Novel mutations (3 unreported) are shown in bold