From: Rare variants in the ATMgene and risk of breast cancer
Family ID | Variant | Type | Total BC | BC < 50 | ATM+ (obligates) | ATM- | No. of Individuals |
---|---|---|---|---|---|---|---|
O011 | c.170G > A | TSJ | 3 | 2 | 1 | 0 | 21 |
O024 | c.1924G > T | TSJ | 3 | 2 | 2 | 0 | 10 |
K011 | c.3802delG | TSJ | 2 | 2 | 2 | 1 | 24 |
N014 | c.3802delG | TSJ | 2 | 1 | 1 | 1 | 24 |
A015 | c.3802delG | TSJ | 1 | 1 | 0 | 0 | 10 |
O035 | c.3802delG | TSJ | 4 | 0 | 0 | 0 | 16 |
K021 | c.5623C > T | TSJ | 6 | 2 | 3 | 11 | 159 |
N024 | c.6997dupA | TSJ | 4 | 0 | 0 | 2 | 15 |
K031,2,3 | c.7271T > G | M | 5 | 3 | 9 | 7 | 82 |
K045 | c.7271T > G | M | 9 | 6 | 7 | 22 | 162 |
K051 | c.7271T > G | M | 3 | 2 | 1 | 1 | 21 |
K061 | c.7271T > G | M | 8 | 5 | 0 | 13 | 72 |
K071 | c.7271T > G | M | 6 | 4 | 3 | 2 | 38 |
K085 | c.7271T > G | M | 4 | 2 | 3 (3) | 4 | 66 |
K091 | c.7271T > G | M | 5 | 4 | 2 | 1 | 36 |
N032 | c.7271T > G | M | 3 | 2 | 0 | 0 | 16 |
O045 | c.7271T > G | M | 3 | 1 | 0 (1) | 0 | 18 |
O052 | c.7271T > G | M | 1 | 1 | 0 | 0 | 17 |
O065 | c.7271T > G | M | 2 | 1 | 0 | 0 | 18 |
O072 | c.7271T > G | M | 2 | 0 | 0 | 0 | 19 |
O085 | c.7271T > G | M | 4 | 1 | 0 | 3 | 31 |
O092 | c.7271T > G | M | 5 | 4 | 0 | 0 | 15 |
O102 | c.7271T > G | M | 3 | 1 | 0 | 1 | 23 |
N044 | c.7831_7835del | TSJ | 5 | 0 | 1 | 1 | 23 |
K101 | c.7886_7890del | TSJ | 2 | 2 | 0 | 1 | 26 |
O115 | c.8734A > G | M | 5 | 1 | 1 | 1 | 26 |
K111 | c.8851-1G > T | TSJ | 8 | 1 | 7 | 14 | 154 |
Total | Â | Â | 108 | 51 | 43 (4) | 86 | 1142 |