Table 3.
Gene | Total no. of carriers | Relatives tested (n)(carriers) | Breast cancer surveillance | Ovarian cancer surveillance | Other cancer surveillance |
CHEK2 | 43 | 21 (9) | Yes | No increased risk | Yes; colon |
PALB2 | 23 | 29 (12) | Yes | Insufficient evidence | Insufficient evidence |
ATM | 25 | 21 (7) | Yes | No increased risk | Insufficient evidence for PanCa/PrCa |
TP53 | 20 | 12 (6) | Yes | No increased risk | Yes; multiple sites |
RAD51C | 10 | 2 (2) | Insufficient evidence | Yes | Insufficient evidence |
NBN | 6 | 6 (3) | Yes | Insufficient evidence | Insufficient evidence |
PTEN | 4 | 4 (1) | Yes | No increased risk | Yes; endometrium, thyroid, colon |
RAD51D | 4 | 2 (0) | Insufficient evidence | Yes | Insufficient evidence |
PMS2 | 4 | 4 (2) | Insufficient evidence | Low/no increased risk | Yes; colon, endometrium, |
MSH6 | 3 | 2 (0) | Insufficient evidence | Yes | Yes; endometrium, gastrointestinal tract |
BRIP1 | 3 | 6 (1) | No increased risk | Yes | Insufficient evidence |
MLH1 | 1 | 1 (0) | Insufficient evidence | Yes | Yes; endometrium, gastrointestinal tract |
SDHB/C | 2 | 1 (0) | Insufficient evidence | No increased risk | Yes; paragangliomas |
Total | 148 | 111 | 121 | 21 | 77 |
Out of which 65 index | Out of which 18 index | Out of which 41 index |
Bold numbers indicate statistically significant findings.