Table 3 SNPs with a ⩾3% minor allele frequency in the BRCA2 gene among 290 prostate cancer patients, by race
From: Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer
Exon | Nucleotide position | Nucleotide change | Amino-acid change | Genotype | Total N =290 | % | Caucasian N =257 | % | African American N =33 | % | P -value a |
|---|---|---|---|---|---|---|---|---|---|---|---|
SNP in the 5′ UTR region | |||||||||||
202 | G>A | 5′ UTR | GG | 160 | 55.2 | 139 | 54.1 | 21 | 63.6 | 0.51 | |
AG | 100 | 34.5 | 90 | 35.0 | 10 | 30.3 | |||||
AA | 30 | 10.3 | 28 | 10.9 | 2 | 6.1 | |||||
Non-synonomous SNPs | |||||||||||
10 | 1092 | A>C | N289H | AA | 269 | 92.8 | 240 | 93.4 | 29 | 87.9 | 0.25 |
ACb | 21 | 7.2 | 17 | 6.6 | 4 | 12.1 | |||||
10 | 1341 | A>C | N372H | AA | 170 | 58.6 | 142 | 55.3 | 28 | 84.8 | 0.004 |
AC | 98 | 33.8 | 93 | 36.2 | 5 | 15.2 | |||||
CC | 22 | 7.6 | 22 | 8.6 | — | — | |||||
11 | 3198 | A>G | N991D | AA | 268 | 92.4 | 240 | 93.4 | 28 | 84.8 | 0.08 |
AGb | 22 | 7.6 | 17 | 6.6 | 5 | 15.2 | |||||
11 | 5971 | C>T | T1915M | CC | 272 | 93.8 | 243 | 94.6 | 29 | 87.9 | 0.13 |
CTb | 18 | 6.2 | 14 | 5.4 | 4 | 12.1 | |||||
Synonomous or intronic SNPs | |||||||||||
10 | 1592 | A>G | S455S | AA | 269 | 92.8 | 240 | 93.4 | 29 | 87.9 | 0.25 |
AGb | 21 | 7.2 | 17 | 6.6 | 4 | 12.1 | |||||
11 | 2456 | T>C | H743H | TT | 269 | 92.8 | 240 | 93.4 | 29 | 87.9 | 0.25 |
CTb | 21 | 7.2 | 17 | 6.6 | 4 | 12.1 | |||||
11 | 3623 | A>G | K1132K | AA | 134 | 46.2 | 121 | 47.1 | 13 | 39.4 | 0.68 |
AG | 121 | 41.7 | 105 | 40.9 | 16 | 48.5 | |||||
GG | 35 | 12.1 | 31 | 12.1 | 4 | 12.1 | |||||
11 | 4034 | T>C | V1269Vc | TT | 195 | 67.2 | 171 | 66.5 | 24 | 72.7 | 0.72 |
CT | 77 | 26.6 | 69 | 26.8 | 8 | 24.2 | |||||
CC | 16 | 5.5 | 15 | 5.8 | 1 | 3.0 | |||||
14 | 7469 | A>G | S2414S | AA | 170 | 58.6 | 155 | 60.3 | 15 | 45.5 | 0.23 |
AG | 104 | 35.9 | 89 | 34.6 | 15 | 45.5 | |||||
GG | 16 | 5.5 | 13 | 5.1 | 3 | 9.1 | |||||
17 | IVS17-14 | T>C | intronic | CC | 86 | 29.7 | 70 | 27.2 | 16 | 48.5 | 0.04 |
CT | 134 | 46.2 | 123 | 47.9 | 11 | 33.3 | |||||
TT | 70 | 24.1 | 64 | 24.9 | 6 | 18.2 | |||||