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Table 2 Characteristics of the families used in the estimation of ATM penetrance

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    108 51 43 (4) 86 1142
  1. M, missense variant; TSJ, truncating or splice-site mutation.
  2. 1 Tavtigian et al (2009); 2 Bernstein et al (2006); 3 Chenevix-Trench et al (2002); 4 found by direct sequencing (unpublished data); 5 found by iPLEX, this study.