Table 2.
Family history of the identified heterozygous CHEK2 c.1312 G > T, p.(Asp438Tyr) carriers
| Index ID -Cancers/tumors (age at diagnosis) |
Breast/ovarian cancer(s) in 1st and/or 2nd degree relatives (age at diagnosis) | Breast/ovarian cancer(s) in 3rd degree relatives (age at diagnosis) | Other cancers in 1st and/or 2nd relatives (age at diagnosis) |
|---|---|---|---|
| Her1 -Bil Br (45, 48) | Br (29) [-], Br (47) [+], Br (u) | - | Leukemia (65), Lung (u) |
| Her2 -Br (47) | Br and Basalioma (64) [+], Br (u) | Br (62) [-], Br (u) | Pancreatic (50) [+] |
| Uns1 -Br (71) | Br (72) | - | - |
| Uns2 -Br (66) | Bil Br (u) | - | - |
| Uns3 -Br (62) | Br (u) | - | Prostate and Bone (75) |
| Uns4 -Br (74) | - | - | Stomach (48), Uterine (49), Brain (7) |
| Uns5 -Br (75) | - | - | Leukemia (u) |
| Uns6 -Br (50) | - | - | - |
| Uns7 -Br (53) | - | - | - |
| Uns8 -Br (57) | - | - | - |
| Uns9 -Br (53) | - | - | - |
| Uns10 -Bil Br (44, 47) | - | - | - |
| Uns11 -Br (54) | - | - | - |
| Uns12 -Br (58) | - | - | - |
- : none reported, Br breast, Bil Br bilateral breast, u unknown disease onset age, Her hereditary cohort, Uns unselected cohort
All tested cases marked as [+], if positive and [-], if negative for CHEK2 c.1312 G > T, p.(Asp438Tyr)