Table 1.
Clinical data of known vs latent BRCA1/2 mutation carriers.
| All | Known carriers | Latent carriers | P-value | |
|---|---|---|---|---|
| Number of pts | 297 | 96 | 202 | |
| Median follow-up, months (range) | 47.9 (3.7–141) | 81.3 (3–491) | ||
| Median age at diagnosis, months (range) | 44.7 (27.8–80.3) | 43.7 (23.8–75) | 0.828 | |
| BRCA1 carriers age at diagnosis, mean (SD) a | 43.6 (11.24) | 44.0 (11.1) | 0.81 | |
|
BRCA2 carriers age at diagnosis, mean (SD) |
49.8 (13.85) |
47 (9.46) |
0.26 |
|
| Mutation in, No. (%) | ||||
| BRCA1 | 71 (74) | 118 (58) | 0.0076 | |
| 185delAG | 39 (55) | 69 (58.5) | ||
| 5382insC | 12 (17) | 21 (17.8) | ||
| Other | 4 (5.6) | 14 (11.9) | ||
| Not specified | 16 (22.5) | 14 (11.9) | ||
| BRCA2 | 23 (24) | 84 (42) | 0.0026 | |
| 6174delT | 18 (78) | 66 (78.6) | ||
| 8765delAG | 2 (9) | 4 (4.8) | ||
| Other | 0 | 12 (14.3) | ||
| Not specified | 3 (13) | 2 (2.3) | ||
| Both |
2 (2) |
0 |
||
| Performed BSO, No. (%) (% of them prior to BC diagnosis) |
68 (71) 66.2 |
173 (85.6) 2 |
0.0028 | |
| First diagnosed by, No. (%) | ||||
| MRI | 56 (58.3) | 5 (2.5) | <0.00001 | |
| Mammography | 17 (17.7) | 43 (21.3) | 0. 4697 | |
| US | 9 (9.4) | 9 (4.5) | 0.0986 | |
| Self-Palpation b | 14 (14.6) | 131 (64.9) | <0.00001 | |
| Unknown | 0 | 14 (6.9) | 0.0085 | |
| Diagnosed during pregnancy or postpartum, No. (%) | 9 (9.4) | 18 (8.9) | 0.8884 | |
| Recurrent disease, No. (%) | ||||
| Ipsilateral recurrence | 2 (2.1) | 23 (11.4) | 0.0069 | |
| Contralateral second primary | 4 (4.2) | 33 (16.3) | 0.0031 | |
| Distant recurrence | 3 (3.1) | 20 (9.9) | 0.0401 | |
| Non-BC after BC diagnosis | 0c | 8 (4)d | 0.0473 | |
| Status at last follow-up, No. (%) | ||||
| Alive without disease | 93 (95.8) | 178 (88.1) | 0.0338 | |
| Alive with disease | 0 | 16e (7.9) | <0.00001 | |
| Deceased | 3 (3.1) | 8f (4) | 0.7014 | |
Abbreviations: BC, Breast cancer; BSO, bilateral salpingo-oophorectomy; NS, non-significant.
Including 2 carriers of both BRCA1 and BRCA2 mutations.
Interval tumors in the “known carriers” cohort/tumors first discovered by the patient and not by population screening in the “latent carriers” cohort.
Seven women had cancer prior to BC diagnosis: Ovarian cancer (n = 3), Uterine cervix cancer (n = 1), Gastric cancer (n = 1), Colon cancer (n = 1), Parotid gland Merkel cell tumor (n = 1).
Pancreatic cancer (n = 1), Non-Hodgkin Lymphoma (n = 1), Ovarian cancer (n = 1), Rectal cancer (n = 1), Bladder cancer (n = 1), Chronic myelogenous leukemia (n = 1), Thyroid cancer (n = 1), Endometrial cancer (n = 1). Additional patient had Ovarian cancer prior to BC (performed genetic testing only after BC diagnosis).
Including one patient with Ovarian cancer on treatment.
Including three patients with non-BC related deaths.