Hereditary Ovarian Cancer syndrome and the BRIP1 gene
BRIP1 stands for BRCA1 Interacting Protein C-Terminal Helicase 1. It works with BRCA1 to fix DNA damage.
Mutations in BRIP1 are associated with increased risk of ovarian cancer. The risk is still being determined, but is likely 4% to 12% over a lifetime. This is significantly less than for BRCA1, where the risk is 20 to 60% lifetime but much higher than the population risk of 1 or 2%.
Most guidelines recommend removing the ovaries and fallopian tubes around age 55. This is when risk approaches 1%. Surgery is rarely recommended before menopause.
Perhaps surprisingly, BRIP1 has not been shown to significantly increase breast cancer risk. Also, some BRCA-related cancer treatments, such as PARP inhibitors, don't seem to work in individuals with BRIP1 mutations.
There is a 50% chance of a person who carries a germline BRIP1 mutation, whether male or female, passing the mutation to their son or daughter. If a mutation is identified, then predictive testing is available for blood relatives.
BRIP1 is a Fanconi anaemia gene and is also known as FANCJ. If a child inherits 2 pathogenic BRIP1 mutations, one from their mother and one from their father (biallelic mutations), Fanconi’s anaemia results.
Does this sound like you or your family? Has an BRIP1 mutation been detected in a blood relative? Make an appointment with Dr Hilda High at Sydney Cancer Genetics. It is a confidential opportunity to discuss your personal and family history of cancer and genetic testing can be organised, if needed.
This link may be useful
- The Cancer Genetics section of the Cancer Institute's eviQ website provides up-to-date Australian-based management guidelines