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 | Â | 1/75 | 1/93 | Yes |
Exon 5 | 430 G>A | A144T | 1/75 | 0/93 | No |
Intron 5 | 508-31C>G | Â | 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 | Â | 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 |