Table 1 Molecular and clinical characteristics of mutation-positive patients
Patient | Type of cancer | Mutation | Age of onset | Number of ovarian cancers in family | Number of breast cancers in family |
|---|---|---|---|---|---|
BRCA1 | |||||
1 | Breast cancer | c.181 T > G, p.C61G “standard panel” mutation | 43 | 2 | 0 |
2 | Bilateral breast | 35/42 | 0 | 6 | |
3 | Breast cancer | 42 | 2 | 0 | |
4 | Breast cancer | 25 | 2 | 2 | |
5 | Ovarian cancer | c.3531delT, p.F1177Lfs*33 | 39 | 1 | 0 |
6 | Breast cancer | c.5266dupC, p.Q1756Pfs*74 “standard panel” mutation | 59 | 3 | 0 |
7 | Ovarian cancer | 59 | 4 | 0 | |
8 | Breast cancer | 44 | 0 | 1 | |
9 | Breast cancer | 55 | 1 | 0 | |
10 | Breast cancer | 44 | 1 | 1 | |
11 | Bilateral breast | 25 | 1 | 0 | |
BRCA2 | |||||
1 | Breast cancer | c.1310_1313delAAGA, p.Lys437Ilefs*22 | 37 | 0 | 1 |
2 | Breast cancer | 38 | 0 | 4 | |
3 | Breast cancer | c.6267_6269delinsC, p.E2089_H2090delinsDfs*2 | 41 | 0 | 3 |
4 | Bilateral breast | c.7913_ 7917delTTCCT, p.F2638* | 40 | 0 | 1 |
5 | Breast cancer | c.9027delT, p.Y3009Yfs*19 | 52 | 1 | 1 |
6 | Breast cancer | c.9371 A > T, p.N3124I | 67 | 1 | 1 |
7 | Bilateral breast | - | 2 | 1 | |
8 | Bilateral breast | c.9403delC, p.L3135Ffs*28 | 36 | 0 | 1 |
9 | Breast cancer | 37 | 2 | 1 | |
10 | Breast cancer | c.10095delCinsGAATTATATCT, p.V3365Vfs*5 (non-pathogenic) | 61 | 0 | 1 |
PALB2 | |||||
1 | Breast cancer | c.509_510delGA | <50 | 0 | 1 |
2 | Breast cancer | 48 | 0 | 2 | |