From: PALB2 variants in hereditary and unselected Finnish Prostate cancer cases
Exon/Intron | Nt change | Amino acid Change | Carrier Frequency (OR; 95% CI) | ||
---|---|---|---|---|---|
 |  |  | Familial | Unselected | Controls |
PALB2 | Â | Â | Â | Â | Â |
Ex 4 | 1592delT | Leu531>Fs>Stop | 1/178 (0.6%) (4.3; 0.3-68.8) | 2/748 (0.3%) (2.0; 0.2-22.2) | 1/760 (0.2%) |
Ex 4 | 1674A>G | Gln559Agr | 36/178 (20.2%) (1.2; 0.8-1.8) | 153/748(20.5%) (1.2; 0.9-1.5) | 134/760(18.0%) |
Ex 8 | 2794G>A | Val932 Met | 4/178 (2.2%) (1.0; 0.3-3.4) | 7/285(2.5%) (1.2; 0.4-3.1) | 10/470 (2.1%) |
Ex 9 | 2993G>A | Gly998Glu | 8/178 (4.5%) (1.6; 0.7-3.5) | 35/748 (4.9%) (1.6; 0.9-2.8) | 22/760 (2.9%) |
Ex 12 | 3300T>G | Thr1100Thr | 6/178 (3.4%) (0.8; 0.3-2.0) | 30/748 (3.9%) (1.0: 0.6-1.7) | 30/760 (3.9%) |
5'UTR | G>A | - | 8/178 (4.5%) (1.8; 0.7-4.4) | 14/285 (4.9%) (2.0; 0.9-4.3) | 12/470 (2.6%) |