Table 2.
Frequencies of moderate and low-risk variants
| Gene/locus | Mutation/reference SNP | Population | Allele frequency, % |
|---|---|---|---|
| Rare moderate penetrance breast cancer susceptibility genes | |||
| ATM | mutations | Western population | 0.25–0.5 |
| BRIP1 | mutations | UK | 0.15 |
| CHEK2 | 1100delC | Netherlands | 0.7–1.3 |
| Finland | 0.55–0.7 | ||
| UK | 0.18–0.25 | ||
| Germany | 0,075–0,125 | ||
| Australia | 0.07 | ||
| Sweden | 0.3–0.5 | ||
| Poland | 0.1–0,125 | ||
| Czech Republic | 0.15 | ||
| Italy | 0,055 | ||
| USA | 0.15–0.2 | ||
| Canada | 0.1 | ||
| Spain | no detection | ||
| PALB2 | mutations | UK | 0.25 |
| Common low penetrance breast cancer susceptibility SNPs | |||
| FGFR2 | rs1219648 | USA/European ancestry | 39 |
| rs2981582 | UK | 38 | |
| Asia | 30 | ||
| LSP1 | rs3817198 | UK | 30 |
| Asia | 14 | ||
| MAP3K1 | rs889312 | UK | 28 |
| Asia | 54 | ||
| TGFB1 | L10P | Western population | 38 |
| TOX3 | rs3803662 | Western population | 14 |
| rs3803662 | UK | 25 | |
| Asia | 60 | ||
| 2q35 | rs13387042 | Western population | 25 |
| 8q | rs!3281615 | UK | 40 |
| Asia | 56 | ||
SNP = Single nucleotide polymorphism.