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Table 1 Observed PALB2 variants among the Finnish familial and unselected prostate cancer cases.

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

     

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%)