About 5–10% of all cancers are caused by a hereditary predisposition. Women with a BRCA1/2 mutation (breast cancer gene) face an elevated risk of 27–57% of developing breast cancer and 6–40% of developing ovarian cancer by the age of 70 years .
Preventive possibilities are limited to chemoprevention and prophylactic surgery, which can be both physically and psychologically demanding. Although therapeutic options are available, hereditary breast and ovarian cancer (HBOC) caused by a BRCA1/2 mutation accounts for a disproportionally large amount of life years lost as it occurs at a relatively young age. As this is an autosomal dominant predisposition, there is a 50% risk of passing it on to the next generation.
Therefore, couples with a BRCA1/2 mutation and a wish for a biological child have three reproductive options:
- A natural pregnancy, implying acceptance of the risk of passing on the BRCA mutation;
- A prenatal diagnosis (diagnosis during pregnancy and possible termination of pregnancy in case of a female carrier);
- Preimplantation genetic diagnosis (PGD) (selection of IVF and intracytoplasmic sperm injection [ICSI] embryos, free of the BRCA mutation before implantation in the uterus).
