Gene | Genetic syndrome | Ovarian cancer risk (%) | Risk reduction strategy |
MLH1/MSH2/ MSH6/ EPCAM/PMS2 | Lynch | 8–10 | Risk reducing hysterectomy and salpingo-oophorectomy when childbearing complete |
TP53 | Li-Fraumeni | Elevated but specific range is unknown | No specific recommendations |
PTEN | Cowden | Not definitely demonstrated its role in ovarian cancer susceptibility | No specific recommendations |
STK11 | Peutz-Jeghers | 18–21 (benign sex cord tumor with annular tubules) | No specific recommendations |
EXTs | Ollier | 2 (granulosa cell tumor) | No specific recommendations |
Patch | Gorlin | 2 (ovarian fibrosarcoma) | No specific recommendations |
RAD51 | / | ≃9 | Risk reducing salpingo-oophorectomy (45–50 years) |
CHEK2 | / | Potential increase in ovarian cystadenomas, borderline ovarian tumors, and low grade invasive cancers but not high grade ovarian cancer | No specific recommendations |
BARD1 | / | Potential increase in ovarian cancer risk | No specific recommendations |
ATM | / | 6–33 | Risk reducing salpingo-oophorectomy: evidence insufficient; manage based on family history |
ATR | / | Not definitely demonstrated its role in ovarian cancer susceptibility | No specific recommendations |
EMSY | / | Not definitely demonstrated its role in ovarian cancer susceptibility | No specific recommendations |
BRIP1 | / | 4–13 | Risk reducing salpingo-oophorectomy (45–50 years) |
PALB2 | / | Potential increase in ovarian cancer risk | Risk reducing salpingo-oophorectomy: evidence insufficient; manage based on family history |
Mre11/RAD50 | / | Potential increase in ovarian cancer risk | No specific recommendations |
NBS1 | / | Elevated but specific range is unknown | Risk reducing salpingo-oophorectomy: evidence insufficient; manage based on family history |