Table 3.
Clinico-pathological characteristics of ATM mutant cases in breast cancer (n = 6).
| S no | Age | Family history | Tumor laterality | pT | pN | pM | Stage | Grade | Status | ER | PR | Her-2 | TNBC | Mutation | dbSNP ID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 63 | YES (first degree relative—breast cancer) | Unilateral | T3 | N2 | M1 | IV | G2 | Dead (disease progression) | Negative | Negative | Negative | Yes | c.6115G > A: p.Glu2039Lys | rs864622251 |
| 2 | 32 | No | Unilateral | T3 | N0 | M0 | II | G2 | Alive | Positive | Positive | Positive | No | c.6115G > A: p.Glu2039Lys | rs864622251 |
| 3 | 39 | No | Unilateral | T3 | N0 | M0 | II | G2 | Alive | Positive | Positive | Positive | No | c.6115G > A: p.Glu2039Lys | rs864622251 |
| 4 | 39 | YES (first degree relative—breast cancer) | Unilateral | T2 | N1 | M0 | II | G2 | Alive | Positive | Positive | Negative | No | c.73-1G > T | rs1555054043 |
| 5 | 38 | YES (first degree relative—breast cancer) | Unilateral | T4 | N1 | M0 | III | G3 | Alive | Positive | Negative | Negative | No | c.381delA: p.Thr127fs | rs587781831 |
| 6 | 59 | YES (second degree relative—breast cancer) | Unilateral | T3 | N1 | M0 | III | G2 | Alive | Positive | Positive | Negative | No | c.8152-1G > A | rs1398616877 |