Table 1.
Participant’s characteristics
| Total [n = 104] N (%) |
|
|---|---|
| Age at first High-Risk Consultation, years [median (range)] | 43.5 (19–75) |
| Marital statusa | |
| Married/civil union | 77 (74.0) |
| Single/divorced | 24 (23.1) |
| Childrenb | |
| No | 38 (36.5) |
| Yes | 64 (61.5) |
| Smoking habitsc | |
| Non-smoker | 60 (57.7) |
| Current/former smoker | 38 (36.5) |
| Comorbidities | |
| No comorbidities | 52 (50.0) |
| Cardiovascular risk factor or cardiopulmonary disease | 33 (31.7) |
| Cancer | 8 (7.7) |
| Others | 11 (10.7) |
| Age at genetic testing, years [median (range)] | 43.0 (18–75) |
| Carrier and clinical status | |
| Symptomatic carrier | 9 (8.7) |
| Index case | 4 (3.9) |
| Relative | 5 (4.8) |
| Cancer diagnosis prior the genetic testing | 3 (2.9) |
| Cancer diagnosis after the genetic testing | 2 (1.9) |
| Asymptomatic carrier | 93 (89.4) |
| No actionable variant identified | 2 (1.9) |
| Symptomatic | 1 (0.9) |
| Asymptomatic | 1 (0.9) |
| Altered gene | |
| BRCA1 | 31 (29.8) |
| BRCA2 | 55 (52.9) |
| BRCA1 + BRCA2 | 1 (1.0) |
| BRCA2 + ATM | 2 (1.9) |
| BRCA2 + CDH1 | 1 (1.0) |
| BRCA2 + MSH6 | 1 (1.0) |
| CHEK2 | 4 (3.8) |
| RAD51C | 4 (3.8) |
| CDH1 | 2 (1.9) |
| NF1 | 1 (1.0) |
| No actionable variant identifiedd | 2 (1.9) |
| Genetic variant | |
| Pathogenic | 90 (86.5) |
| Likely pathogenic | 6 (5.8) |
| VUSe | 6 (5.8) |
| No actionable variant identified | 2 (1.9) |
| Follow-up time, years [median (range)] | 5 (1–13) |
| Lost to follow-up | 7 (6.7) |
| Dead | 3 (2.9) |
aUnknown for 3 participants
bUnknown for 2 participants
cUnknown for 6 participants
dGenetic testing not performed in 1 participant
eVariant of Uncertain Significance