Table 2. Non-synonymous sequence variants found in BRIP1/FANCJ in familial PrCa.
| Cases, n (%) | Controlsa, n (%) | |||||
|---|---|---|---|---|---|---|
| Exon | Nucleotide change | dbSNP ID | Protein change | n=192 | n=2081 | |
| 6 | c.517C>T | rs4988345 | p.Arg173Cys | 1 (0.52%) | 24 (1.10%) | |
| c.577G>A | rs4988346 | p.Val193Ile | 1 (0.52%) | 14 (0.67%) | ||
| c.584T>C | p.Leu195Pro | 2 (1.04%) | 6 (0.28%) | |||
| 7 | c.890A>G | p.Lys297Arg | 2 (1.04%) | 6 (0.28%) | ||
| 19 | c.2755C>T | rs4986764 | p.Pro919Ser | Pro/Ser | 83 (43.00%) | 970 (46.0%) |
| Ser/Ser | 44 (22.9%) | 328 (15.7%) | ||||
PrCa=prostate cancer.
a
Data from Seal et al (2006).