Table 3.
Characteristics of the Colombian breast/ovarian cancer families harboring BRCA1/2 mutations and variants.
| Family | No. of Cancers | Age at Onset (years) | Other Cancers: Age at Onset (years) | ||
|---|---|---|---|---|---|
| Female BC (bilateral) | OC | BC | OC | ||
| Families carrying deleterious BRCA1 mutations | |||||
| 295 | 5 | 1 | 38*, 61, ?, ?, ? | 39 | Colon:65, prostate:83 |
| Families carrying deleterious BRCA2 mutations | |||||
| Small-range mutations | |||||
| 291 | 3 | — | 30, 35, 65* | — | Sarcoma:47 |
| 399 | 3 | — | 44*, 60, 74 | — | — |
| 409 | 3 | — | 43, 45*, 45 | — | 3x Skin:48, 50, 89, colon:33, lung:69 |
| 382 | 3 (1) | — | 47, 55*, 55/65 | — | Leukemia:55 |
| 55a/648 | 4 | — | 46*, 63*, 82, ? | — | Colon:31, 2x cervix:40, ?, stomach:41, esophagus:83 |
| 282 | 4 (1) | — | 34/65*, 60, 60, 68 | — | Colon:30, bladder:65, lung:73 |
| Ex1-14del mutations | |||||
| 1465 | 3 | — | 47, 51*, 61 | — | Liver:60, retinoblastoma:? |
| 0055 | 3 (1) | — | 45/48*, 48, 64 | — | — |
| Families carrying BRCA2 sequence variants | |||||
| 482 | 2 | 1 | 55, ? | 59* | — |
| 31 | 3 | — | 36, 38, 47* | — | Larynx:40 |
| 92 | 3 | — | 45, 50*, 70 | — | Larynx:75 |
| 430 | 3 | 1 | 38, 40, 45* | 79 | — |
| 545 | 3 | — | 35*, 37, ? | — | Lung:? |
| 558 | 3 | — | 58, 62, 68* | — | — |
| 644 | 3 | — | 55, 60, 63* | — | Liver:63, 2x colon:66, 70, pancreas:70 |
| 643 | 3 | — | 54, 55*, 55 | — | Thyroid:54 |
| 237 | 4 | — | 48, 63*, 66, 68 | — | — |
| 23 | 5 | — | 56, 57*, 58, 63, 75 | — | Brain:63, bone:79, larynx:80, prostate:86 |
| 485 | 6 | — | 37, 40, 49*, ?, ?, ? | — | Lung:?, liver:? |
| 639 | 6 | — | 40, 40, 40, 49, 50*, 50 | — | — |
*Proband, BC: breast cancer, OC: ovarian cancer.
aCase 648 from the Col-BCCC study turned out to be a member of family 55.