Table 2.
Likely pathogenic and pathogenic variants of ATM and CHEK2 in our study population of BC patients.
| Variants of ATM Detected | Variant Classification | Number of BC Patients | |
|---|---|---|---|
| c.6154G>A, p.Glu2052Lys | Likely pathogenic | 5 index cases | 1 relative |
| c.2838+2162_4110-292del | Pathogenic | 1 index case | 1 relative |
| c.5441T>A, p.Leu1814 * | Pathogenic | 1 index case | 1 relative |
| c.(8850+1_8851-1)_(*3591_?)del, p.(?) | Pathogenic | 1 index case | - |
| c.8010+1delG | Likely pathogenic | 1 index case | - |
| c.5697C>A, p.Cys1899 * | Pathogenic | 1 index case | - |
| c.7327C>T, p.Arg2443 * | Pathogenic | 1 index case | - |
| c.2192dupA, p.Tyr731 * | Pathogenic | 1 index case | - |
| c.2135C>G, p.Ser712 * | Likely pathogenic | 1 index case | - |
| c.8395_8404del10, p.Phe2799Lysfs *4 | Pathogenic | 1 index case | - |
| c.8814_8824del, p.Met2938Ilefs * | Pathogenic | 1 index case | - |
| c.5932G>T, p.Glu1978 * | Pathogenic | 1 index case | - |
| Variants of CHEK2 detected | Variant classification | Number of BC patients | |
| c.190G>A, p.Glu64Lys | Likely pathogenic | 5 index cases | - |
| c.470T>C, p.Ile157Thr | Pathogenic | 3 index cases | - |
| c.1169A>C, p.Tyr390Ser | Likely pathogenic | 2 index cases | 1 relative |
| c.1100delC, p.Thr367Metfs *15 | Pathogenic | 2 index cases | - |
| c.1189A>C, p.Tyr390Ser | Likely pathogenic | 1 index case | - |
| c.592+3A>T, p.(?) | Likely pathogenic | 1 index case | - |
| c.549G>C, p.Leu183Phe | Pathogenic | 1 index case | - |
| c.85C>T, p.Gln29 * | Pathogenic | 1 index case | - |