Pathogenic ATM germline changes in families with breast cancer, sporadic breast cancer, and controls
| Family ID | Phenotype* | Exon | nt change | Sporadic breast cancer | Controls |
|---|---|---|---|---|---|
| Br, breast; Bs, basal cell; Bt, brain; Csu, cancer site unknown; Pan, pancreas; Pro, prostate; Pul, pulmonary; Sar, sarcoma; Sto, stomach; Th, thyroid. | |||||
| *The mutation status has not been defined for all subjects. | |||||
| †Initially studied probands. | |||||
| ‡Patients subsequently tested positive for BRCA2 mutation 5797G>T. | |||||
| 003 | Br(50)†, Br(59), Br(51), Th(47), Pro(59), Br (71), Sto, Pul (55), Csu | 53 | 7522G>C | 0/85 | 0/200 |
| 005 | Br(57)+Sto(41)†, Bs(70), Sto, Sto, Sto(41), Csu, Th(55) | 53 | 7522G>C | 0/85 | 0/200 |
| 004 | Br(50)†, Br(47)+Sar(18)†, Br(40)†, Sto, Bt, Pan(40), Br(54), Sto, Pan, Br(45)‡, Br(37)‡, Bt, Sto, Sto, Br(30), Bt, Pro, Sto | 49 | 6903insA | 0/85 | 0/200 |