Table 2 Variation in the RAD51 gene
From: Variation in the RAD51 gene and familial breast cancer
Gene region | PCR fragment | Nucleotide change | Amino acid change | Number (%) of heterozygous familiesa | Number (%) of heterozygous controls |
|---|---|---|---|---|---|
Exon 1 (5' UTR) | 1 | c.-135G>C | - | 3/28 (10.7%) | N/D |
Exon 1 (5' UTR) | 1 | c.-172G>T | - | 16/33 (48.5%) | N/D |
Intron 2 | 2 | c.97+110A>G | - | 3/46 (6.5%) | 16/93 (17.2%) |
Intron 3 | 4 | c.226-33T>G | - | 11/46 (23.9%) | 23/93 (24.7%) |
Intron 3 | 4 | c.226-70T>A | - | 20/46 (43.5%) | 43/93 (46.2%) |
Intron 3 | 4 | c.226-72delA | - | 2/46 (4.3%) | 8/93 (8.6%) |
Intron 3 | 4 | c.226-33T>G and c.226-70T>A | - | 4/46 (8.7%) | 8/93 (8.6%) |
Intron 3 | 4 | c.226-33T>G and c.226-72delA | - | 1/46 (2.1%) | 0/93 (0%) |
Intron 3 | 4 | c.226-70T>A and c.226-72delA | - | 1/46 (2.1%) | 6/93 (6.5%) |
Intron 4 | 5 | c.344-36T>G | - | 3/46 (6.5%) | 16/93 (17.2%) |
Exon 6 | 6 | c.449G>A | p.R150Qb | 0/46 (0%), 0/66 (0%) | N/D |
Intron 7 | 7 | c.644+57G>T | - | 1/46 (2.2%) | 0/93 (0%) |
Intron 8 | 9 | c.775-41G>C | - | 1/46 (2.2%) | N/D |
Exon 10 (3' UTR) | 10b | c.1020*+502T>G | - | 19/46 (41.3%) | N/D |
Exon 10 (3' UTR) | 10c | c.1020*+718G>A | - | 18/44 (40.9%) | N/D |
Exon 10 (3' UTR) | 10d | c.1020*+927T>C | - | 17/42 (40.4%) | N/D |