Table 1.
Description of index cases screened for CHEK2 mutations
| Cancer type of index case | Phenotype of familiesa | Number of families |
Index cases |
Mean age of index cases in years (age range) | Cases with mutations N (%) | |
|---|---|---|---|---|---|---|
| Unilateral BC | Bilateral BC | |||||
|
Group I |
|
|
|
|
|
|
| Female cases |
|
|
|
|
|
|
| BC |
Early onset BC (1 case ≤30 years) |
66 |
66 |
- |
27.2 (22–30) |
1 (1.5) |
| BC |
HBC (2 cases, ≥1 diagnosed ≤50 years) |
30 |
17 |
13 |
34.2 (22–48) |
0 (0) |
| BC |
HBC (≥3 cases, ≥1 diagnosed ≤50 years) |
9 |
5 |
4 |
38.1 (24–70) |
0 (0) |
| BC |
HBOC (≥2 cases) |
2 |
2 |
- |
41.5 (35–48) |
0 (0) |
| BC & OCb |
HBOC (≥2 cases) |
4 |
3 |
1 |
31.2 (29–34) |
0 (0) |
| OC |
HBOC (≥2 cases) |
2 |
- |
- |
31 (28–34) |
1 (50) |
| OC |
Early onset OC (1 case ≤45 years) |
19 |
- |
- |
33.2 (22–45) |
0 (0) |
| OC |
HOC (2 cases, ≥1 diagnosed ≤45 years) |
2 |
- |
- |
34 (31–37) |
0 (0) |
| Male cases |
|
|
|
|
|
|
| BC |
Male BC |
11 |
11 |
- |
48 (30–73) |
0 (0) |
| All casesc |
145 |
104 |
18 |
|
2 (1.4) |
|
|
Group II |
|
|
|
|
|
|
| Female cases |
|
|
|
|
|
|
| BC |
Early onset BC (1 case ≤30 years) |
103 |
103 |
- |
27.1 (19–30) |
0 (0) |
| BC |
HBC (2 cases, ≥1 diagnosed ≤50 years) |
55 |
49 |
6 |
40.8 (19–61) |
0 (0) |
| BC |
HBC (≥3 cases, ≥1 diagnosed ≤50 years) |
53 |
47 |
6 |
44.4 (26–73) |
0 (0) |
| BC |
HBOC (≥2 cases) |
8 |
7 |
1 |
49 (26–67) |
0 (0) |
| BC & OCb |
HBOC (≥2 cases) |
3 |
2 |
1 |
45.6 (30–59) |
0 (0) |
| OC |
HBOC (≥2 cases) |
5 |
- |
- |
43.2 (33–60) |
0 (0) |
| OC |
Early onset OC (1 case ≤45 years) |
2 |
- |
- |
30.5 (25–36) |
0 (0) |
| All casesd | 229 | 208 | 14 | 0 (0) | ||
BC, breast cancer; HBC, hereditary breast cancer; HBOC, hereditary breast and ovarian cancer; HOC, hereditary ovarian cancer; OC, ovarian cancer.
asee “Study subjects in Method section”.
bBreast and ovarian cancer in the same patient were counted as two independent cases.
cIncluding 111 female BCs, 11 male BCs and 27 OCs.
dIncluding 222 female BCs and 10 OCs.