Table 5.
Prevalence and istribution of germline pathogenic variants in breast cancer patients from different populations.
| Brazil(%) | Latin-America† (16) (%) | China (17) (%) | South-Korea (18) (%) | USADana-Farber (19) (%) | USAMayo (15) (%) | USAMyriad (2) (%) | USAStanford† (12) (%) | Italy† (20) (%) | Taiwan (21) (%) | |
|---|---|---|---|---|---|---|---|---|---|---|
| N | 370 | 222 | 937 | 496 | 488 | 3907 | 35409 | 198 | 255 | 133 |
| Patdogenic | 57 (15) | 31 (14) | 215 (23) | 79 (16) | 52 (11) | 246 (06) | 3388 (10) | 68 (34) | 68 (27) | 28 (21) |
| APC | 0 (00) | 0 (00) | 0 (00) | 0 (00) | 0 (00) | – | 11 (00) | 0 (00) | 0 (00) | 0 (00) |
| ATM | 8 (02) | 1 (00) | 6 (01) | 0 (00) | 4 (01) | 43 (01) | 329 (01) | 2 (01) | 3 (01) | 1 (01) |
| BARD1 | 0 (00) | – | 5 (01) | 0 (00) | 0 (00) | – | 68 (00) | – | – | 0 (00) |
| BLM | 0 (00) | 0 (00) | – | 0 (00) | – | – | – | 1 (01) | 0 (00) | – |
| BRCA1 | 14 (04) | 10 (04) | 82 (09) | 31 (06) | 18 (04) | 51 (01) | 814 (02) | 35 (18) | 32 (13) | 9 (07) |
| BRCA2 | 6 (02) | 14 (06) | 81 (09) | 30 (06) | 12 (02) | 56 (01) | 828 (02) | 24 (12) | 26 (10) | 11 (08) |
| BRIP1 | 0 (00) | 0 (00) | 3 (00) | 1 (00) | 4 (01) | – | 110 (00) | 0 (00) | 2 (01) | 1 (01) |
| CDH1 | 2 (01) | 0 (00) | 2 (00) | 8 (02) | 0 (00) | 6 (00) | 23 (00) | 1 (01) | 0 (00) | 0 (00) |
| CDKN2A | 0 (00) | 1 (00) | 0 (00) | 0 (00) | 0 (00) | – | 32 (00) | 2 (01) | 0 (00) | – |
| CHEK2 | 3 (01) | 0 (00) | 6 (01) | 2 (00) | 10 (02) | 67 (02) | 397 (01) | – | 0 (00) | 0 (00) |
| EPCAM | 0 (00) | 0 (00) | – | 0 (00) | 0 (00) | – | 4 (00) | 0 (00) | 0 (00) | 0 (00) |
| MITF | 1 (00) | – | – | – | – | – | – | – | 0 (00) | – |
| MLH1 | 0 (00) | 0 (00) | 1 (00) | 2 (00) | 0 (00) | – | 22 (00) | 1 (01) | 0 (00) | 0 (00) |
| MSH2 | 0 (00) | 1 (00) | 3 (00) | 1 (00) | 0 (00) | – | 37 (00) | 0 (00) | 0 (00) | 1 (01) |
| MSH6 | 0 (00) | 1 (00) | 0 (00) | 0 (00) | 1 (00) | – | 73 (00) | 0 (00) | 1 (00) | 0 (00) |
| Monoallelic MUTYH | 9 (02) | 3 (01) | 8 (01) | 1 (00) | 9 (02) | – | – | 5 (03) | – | 1 (01) |
| Biallelic MUTYH | 0 (00) | 0 (00) | 0 (00) | 0 (00) | 0 (00) | – | 7 (00) | 0 (00) | – | 0 (00) |
| NBN | 0 (00) | 0 (00) | 0 (00) | 3 (01) | 1 (00) | – | 59 (00) | 2 (01) | 0 (00) | 0 (00) |
| NF1 | 0 (00) | 0 (00) | 0 (00) | 0 (00) | – | 1 (00) | – | – | 0 (00) | – |
| PALB2 | 5 (01) | 2 (01) | 11 (01) | 0 (00) | 1 (00) | 15 (00) | 316 (01) | 0 (00) | 6 (02) | – |
| PMS2 | 1 (00) | 0 (00) | 2 (00) | 0 (00) | 1 (00) | – | 101 (00) | 0 (00) | 0 (00) | 0 (00) |
| PTEN | 0 (00) | 0 (00) | 0 (00) | 0 (00) | 1 (00) | 1 (00) | 17 (00) | 0 (00) | 0 (00) | 0 (00) |
| RAD50 | 0 (00) | – | 2 (00) | 0 (00) | – | – | – | – | – | 2 (01) |
| RAD51C | 2 (01) | 0 (00) | 0 (00) | 0 (00) | 1 (00) | – | 53 (00) | 0 (00) | 0 (00) | 1 (01) |
| RAD51D | 1 (00) | 0 (00) | 0 (00) | 0 (00) | 1 (00) | – | 19 (00) | – | 1 (00) | 0 (00) |
| RECQL4 | 0 (00) | 0 (00) | – | – | – | – | – | – | 1 (00) | – |
| SMAD4 | 0 (00) | 0 (00) | – | 0 (00) | 0 (00) | – | 3 (00) | 0 (00) | 0 (00) | 0 (00) |
| STK11 | 0 (00) | 0 (00) | 0 (00) | 0 (00) | 0 (00) | – | 4 (00) | 0 (00) | 0 (00) | 0 (00) |
| TERT | 1 (00) | – | 0 (00) | – | – | – | – | – | 0 (00) | – |
| TP53 | 5 (01)* | 0 (00) | 18 (02) | 5 (01) | 0 (00) | 6 (00) | 61 (00) | 0 (00) | 0 (00) | 2 (01) |
| TSC2 | 0 (00) | 0 (00) | – | – | – | – | – | – | 1 (00) | – |
| WRN | 0 (00) | 1 (00) | 0 (00) | – | – | – | – | – | 0 | – |
*p = 0.002. †Sample also included subjects with Hereditary Breast and Ovarian Cancer Syndrome without a Breast Cancer Diagnosis.