Table 2. Clinical profiles of 125 BRCA1/2 mutation carriers related to FMR1 subgenotypes.
| Clinical profile | Normal or high allele, n=94 | At least one low allele, n=31 | Significant test (P-value) |
|---|---|---|---|
| Site of primary cancer (n, %) | |||
| Breast (n=72) | 52 (55.3) | 20 (64.5) | |
| Ovary (n=25) | 20 (21.3) | 5 (16.1) | |
| Asymptomatic (n=28) | 22 (23.4) | 6 (19.4) | |
| Total | 94 (75.2) | 31 (24.8) | 0.663 |
| Age of onset (M±SD) | |||
| Breast cancer | 44.65±7.62 | 42.7±6.71 | 0.318 |
| Ovarian cancer | 55.25±11.25 | 49.0±7.2 | 0.253 |
| Asymptomatic | 44.91±10.86 | 44.3±13.7 | 0.914 |
| Mutation type (n, %) | |||
| 185delAG | 47 (50.0) | 14 (45.2) | |
| 5382insC | 12 (12.8) | 6 (19.4) | |
| 6174delT | 35 (37.2) | 10 (32.3) | |
| 5382insC/6174delT | — | 1 (3.2) | |
| Total | 94 | 31 | 0.261 |
| BRCA1 | 59 (62.8) | 20 (66.7) | |
| BRCA2 | 35 (37.2) | 10 (33.3) | 0.699 |
| Family history (n, %) | |||
| 1st or 2nd BC-OC- PC | 79 (84.0) | 27 (87.1) | |
| Other than BC-OC- PC | 10 (10.6) | 3 (9.7) | |
| None | 5 (5.3) | 1 (3.2) | 0.428 |
Abbreviations: BC, breast cancer; OC, ovarian cancer; PC, pancreatic cancer.
FMR1 normal or high CGG repeats compared with at least one low CGG repeats in relation to clinical characteristics of the 125 BRCA1/2 mutation carriers.