Table 4.
Gene | Deleterious Mutations n (%) | Variants of Uncertain Significance n (%) | ||||||
---|---|---|---|---|---|---|---|---|
| ||||||||
Probands with family history of pancreatic cancer AND family history of: | ||||||||
Breast (n=264) | Ovarian (n=77) | Melanoma (n=77) | Any* (n=323) | Breast (n=264) | Ovarian (n=77) | Melanoma (n=77) | Any* (n=323) | |
|
|
|
||||||
BRCA1 | 5 (1.9) | 4 (5.2) | 0 (0.0) | 5 (1.6) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
BRCA2 | 11 (4.2) | 4 (5.2) | 2 (2.6) | 14 (4.3) | 2 (0.8) | 0 (0.0) | 1 (1.3) | 2 (0.6) |
PALB2 | 2 (0.8) | 0 (0.0) | 0 (0.0) | 2 (0.6) | 4 (1.5) | 3 (3.9) | 2 (2.6) | 7 (2.2) |
CDKN2A | 3 (1.1) | 0 (0.0) | 6 (7.8) | 7 (2.2) | 6 (2.3) | 2 (2.6) | 5 (6.5) | 8 (2.5) |
Total | 21 (8.0) | 8 (10.4) | 8 (10.4) | 28 (8.7) | 12 (4.5) | 5 (6.5) | 8 (10.4) | 17 (5.3) |
Any = Breast cancer, ovarian cancer, or melanoma