Table 2. Detailed characteristics of the 10 women with breast cancer, who were found to be heterozygotes for one of the two ATM gene mutations 7271T>G or IVS10-6T>G.
|
Family history of breast cancer (number of affected relatives) |
||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
First-degree relative |
Second-degree relative |
|||||||||||
| ATM mutation | Laterality | Age at dxa | Follow-up after dxb (years) | Any | Mother | Sister | Daughter | Any | Maternal grandmother | Paternal grandmother | Maternal aunt | Paternal aunt |
| 7271T>G | Unilateral | 41–45 | ⩽10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| IVS10-6T>G | Bilateral | ⩽40 | >10 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Unilateral | ⩽40 | >10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Unilateral | 41–45 | ⩽10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Unilateral | 41–45 | >10 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| Unilateral | 46–50 | ⩽10 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | |
| Unilateral | 46–50 | ⩽10 | 0 | 0 | 0 | 0 | 2 | 0 | 1 | 0 | 1 | |
| Unilateral | 46–50 | ⩽10 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | |
| Unilateral | 46–50 | >10 | 1 | 0 | 1 | 0 | 2 | 0 | 1 | 0 | 1 | |
| Unilateral | 46–50 | >10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
a
Age at diagnosis. For a subject with bilateral breast cancer, this is the age at first diagnosis; the second diagnosis was between 46 and 50 years of age.
b
Time between first primary diagnosis and interview date, range 5.1–16.7 years.