Table 2 |
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|
Variation in the RAD51 gene |
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| Gene region |
PCR fragment |
Nucleotide change |
Amino acid change |
Number (%) of heterozygous familiesa |
Number (%) of heterozygous controls |
|
|
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| 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 |
|
|
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|
UTR, untranslated region; N/D, not determined aValues expressed as the number of heterozygous families because all related individuals shared the same genotype. bReported in Kato and colleagues [22]. |
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|
Lose et al. Breast Cancer Research 2006 8:R26 doi:10.1186/bcr1415 |
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