Table 1.
Frequency of the FANCM c.5791C>T mutation in the studied sample sets by breast cancer subgroups and in the population controls
| Study cohort | N | CC (%) | CT (%) | OR | 95% CI | P value |
|---|---|---|---|---|---|---|
| Helsinki | ||||||
| Controls | 1258 | 1255 (99.8) | 3 (0.2) | – | – | – |
| All BC | 2391 | 2379 (99.5) | 12 (0.5) | 2.11 | 0.59–7.49 | 0.24 |
| Unselected BC | 1699 | 1690 (99.5) | 9 (0.5) | 2.23 | 0.60–8.25 | 0.22 |
| Familial BC | 1078 | 1073 (99.5) | 5 (0.5) | 1.95 | 0.46–8.18 | 0.48 |
| ≥3 affected | 523 | 520 (99.4) | 3 (0.6) | 2.41 | 0.49–12.00 | 0.37 |
| 2 affected | 555 | 553 (99.6) | 2 (0.4) | 1.51 | 0.25–9.08 | 0.64 |
| ER+ | 1795 | 1786 (99.5) | 9 (0.5) | 2.11 | 0.57–7.80 | 0.25 |
| ER− | 412 | 409 (99.3) | 3 (0.7) | 3.07 | 0.62–15.26 | 0.16 |
| TNBC | 141 | 138 (97.9) | 3 (2.1) | 9.09 | 1.82–45.49 | 0.02 |
| Unselected OC | 526 | 524 (99.6) | 2 (0.4) | 1.60 | 0.27–9.58 | 0.64 |
| Tampere | ||||||
| Controls | 808 | 807 (99.9) | 1 (0.1) | – | – | – |
| All BC | 662 | 657 (99.2) | 5 (0.8) | 6.14 | 0.72–52.70 | 0.10 |
| ER+ | 494 | 490 (99.2) | 4 (0.8) | 6.59 | 0.73–59.11 | 0.07 |
| ER− | 122 | 121 (99.2) | 1 (0.8) | 6.67 | 0.41–107.34 | 0.25 |
| TNBC | 68 | 67 (98.5) | 1 (1.5) | 12.04 | 0.74–194.74 | 0.15 |
| Oulu | ||||||
| Controls | 510 | 507 (99.4) | 3 (0.6) | – | – | – |
| All BC | 1323 | 1314 (99.3) | 9 (0.7) | 1.16 | 0.31–4.30 | 1 |
| Unselected | 1147 | 1141 (99.5) | 6 (0.5) | 0.89 | 0.22–3.57 | 0.87 |
| Familial BC | 153 | 150 (98.0) | 3 (2) | 3.38 | 0.68–16.92 | 0.14 |
| YBR | 56 | 56 (100) | 0 (0) | – | – | – |
| ER+ | 434 | 432 (99.5) | 2 (0.5) | 0.78 | 0.13–4.70 | 1 |
| ER− | 109 | 108 (99.1) | 1 (0.9) | 1.56 | 0.16–15.19 | 0.54 |
| TNBC | 69 | 68 (98.6) | 1 (1.4) | 2.49 | 0.25–24.23 | 0.40 |
| Kuopio | ||||||
| Controls | 158 | 157 (99.4) | 1 (0.6) | – | – | – |
| All BC | 430 | 428 (99.5) | 2 (0.5) | 0.73 | 0.07–8.15 | 1 |
| ER+ | 318 | 317 (99.7) | 1 (0.3) | 0.50 | 0.03–7.97 | 1 |
| ER− | 95 | 95 (100) | 0 (0) | – | – | – |
| TNBC | 47 | 47 (100) | 0 (0) | – | – | – |
All BC: all genotyped breast cancer cases in designated study. ≥3 affected: families with three or more breast or ovarian cancer cases among first- or second-degree relatives. 2 affected: families with two first-degree relatives with breast or ovarian cancer
The patient subgroups are overlapping with 386 familial cases belonging also to the unselected cohort in the Helsinki data set and 33 familial cases belonging to the unselected cohort in Oulu data set. The patients may also belong to different subgroups by tumor phenotype
BC breast cancer, OC ovarian cancer, ER estrogen receptor, TNBC triple-negative breast cancer, YBR young breast cancer patients (age at diagnosis ≤40 years) among Oulu data set