Table 2

Ethnic-specific distribution of missense variants in the ATM gene among breast cancer cases and controls

SiteaAmino acid changeAll ethnicitiesAfrican AmericanLatinaJapaneseCaucasian
Cases (n = 428)Controls (n = 426)Cases (n = 117)Controls (n = 117)Cases (n = 101)Controls (n = 99)Cases (n = 100)Controls (n = 100)Cases (n = 110)Controls (n = 110)
146S49C3 (0.7)b6 (1.4)2 (1.7)1 (0.9)02 (2.0)01 (1.0)1 (0.9)2 (1.8)
378D126E43 (10.3)53 (12.7)34 (29.3)38 (32.5)6 (6.1)8 (8.3)01 (1.1)3 (2.9)6 (5.6)
544V182L7 (1.7)4 (1.0)4 (3.5)4 (3.5)3 (3.0)00000
1636L546V14 (3.3)6 (1.4)12 (10.3)6 (5.1)2 (2.0)00000
2119S707P6 (1.5)5 (1.2)1 (0.9)03 (3.0)2 (2.1)002 (1.9)3 (2.9)
2289F763L2 (0.5)01 (0.9)01 (1.0)00000
2572F858L5 (1.3)4 (1.1)1 (0.9)01 (1.1)2 (2.1)1 (1.1)02 (2.0)1 (1.0)
2614P872S8 (1.8)8 (1.9)7 (6.0)6 (5.2)1 (1.0)00002 (2.0)
2932S978P0000000000
3118M1040V7 (1.7)4 (1.0)6 (5.2)3 (2.7)1 (1.0)00001 (0.9)
3161P1054R8 (1.9)13 (3.1)1 (0.9)1 (0.9)2 (2.0)5 (5.1)01 (1.0)5 (4.6)6 (5.5)
3383Q1128R4 (1.0)4 (1.0)4 (3.5)3 (2.7)01 (1.0)0000
4258L1420F4 (1.0)7 (1.7)01 (1.0)2 (2.0)2 (2.1)01 (1.1)2 (1.9)3 (2.8)
5557D1853N47 (12.3)47 (12.5)9 (8.4)8 (7.8)13 (13.8)13 (14.3)2 (2.3)5 (5.9)23 (24.5)21 (21.2)
5558D1853V2 (0.5)1 (0.2)01 (0.9)00002 (1.9)0
6096R2032S01 (0.3)01 (0.9)000000
6176T2059I2 (0.5)2 (0.2)2 (1.7)2 (1.7)000000
6235V2079I3 (0.7)6 (1.4)1 (0.9)2 (1.7)1 (1.0)3 (3.0)001 (0.9)1 (0.9)
6437S2146T2 (0.5)2 (0.2)1 (0.9)2 (1.7)1 (1.0)00000
6995L2322F5 (1.2)4 (1.0)5 (4.3)4 (3.5)000000
  • a Nucleotide position in GenBank (accession no. U82828).

  • b Values represent number (percentage in parentheses).