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Table 5 Mutation analysis of BRIP1/BACH1

From: Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancer

Segment

Nucleotide changea

Protein effect

No. of heterozygous cases

Controls

Reported in SNP perb

Intron 4

379-28 G>A

 

1/75

1/93

Yes

Exon 5

430 G>A

A144T

1/75

0/93

No

Intron 5

508-31C>G

 

23/75

26/93

Yes

Exon 6

517C>T

R173C

1/75

1/93

Yes

Exon 6

584T>C

L195P

1/75

0/93

Yes

Intron 12

1795-47 C>G

 

27/75

Not tested

Yes

Exon 20

3401 delC

frameshift

1/75

0/93

No

Exon 20

3411 T>C

T1137T

40/75

34/93

Yes

Exon 20

3464 G>A

G1155E

1/75

0/93

No

Exon 20

3782 T>C

3' UTR

1/75

Not tested

No

  1. aGenBank accession number NT010783.13. bVariants have been previously reported in the SNP database SNPper [42]. UTR, untranslated region.