Table 2.
Frequencies of pathogenic variants in established and candidate breast cancer genes identified in cases (n = 831) and controls (N = 839) in the Shanghai Breast Cancer Genetic Study
| Breast cancer predisposition genes* | Cases | Controls | P | ||
|---|---|---|---|---|---|
| No. of carriers | % | No. of carriers | % | ||
| Total | 65 | 7.8 | 5 | 0.6 | 3.05 × 10−15 |
| Established genes | 57 | 6.6 | 3 | 0.4 | 1.06 × 10−14 |
| BRCA1 | 13 | 3 | |||
| BRCA2 | 31 | 0 | |||
| PALB2 | 1 | 0 | |||
| PTEN | 1 | 0 | |||
| TP53 | 1 | 0 | |||
| CDH1 | 1 | 0 | |||
| ATM | 4 | 0 | |||
| CHEK2 | 2 | 0 | |||
| NBN | 1 | 0 | |||
| NF1 | 2 | 0 | |||
| Candidate genes | 8 | 1.2 | 2 | 0.2 | 0.12 |
| BARD1 | 2 | 0 | |||
| BRIP1 | 2 | 0 | |||
| RAD51D | 4 | 2 | |||
*No pathogenic variant was identified in genes: STK11, ATK1, CHEK1, FAM175A, FANCM, GEN1, MRE11A, RAD51B, RAD51C, RECQL, RINT1, and XRCC2