OvarianGene - Genetic testing for ovarian cancer

Screening: Unfortunately, screening for ovarian cancer (with the blood test CA125 and vaginal ultrasounds) is not thought to increase survival and therefore risk reducing surgery is often most appropriate. Women over the age of 40 may choose to have bilateral salphingo-oophorectomy. Screening for other cancers may also be needed and will be discussed if necessary.

Ovarian awareness: It is helpful for women to be aware of the signs of ovarian cancer which are:

• Increased abdominal size/significantbloating that doesn’t come andgo
• Difficulty eating/feeling very full after asmall meal
• Abdominal/pelvicpain
• Needing to pass urine more urgently ormore frequently.

 Most of the time people with these signs will not have cancer but it is always important to get them checked out.

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Other risk factors: Diabetes, endometriosis, and ovarian cysts may increase the risk of ovarian cancer. Exposure to asbestos also increases the risk of ovarian cancer. Child birth, pregnancy and breast feeding lower the risk of ovarian cancer. Tubal ligation (female sterilisation) lowers the risk of ovarian cancer by 35%. In addition, oral contraceptives lower the risk of ovarian cancer by up to 50% when taken for 5 or more years.

Lifestyle Factors: It is known that a healthy diet can promote good general health and lower the risk of cancer. In particular, consuming a diet high on fruit and vegetables and low in dietary fat as well as maintaining a normal body weight will lower the risk of ovarian cancer.

Financial issues: Some individuals may be concerned about difficulties obtaining insurance coverage following genetic testing. Currently, there is a moratorium ensuring that individuals do not need to disclose predictive genetic test results. This moratorium is valid until 2019. More information about insurance can be found at: http://www.abi.org.uk

Hereditary Breast and Ovarian Cancer (HBOC): Mutations in BRCA1 & BRCA 2 cause hereditary breast and ovarian cancer. In the general population 0.425% of non-Jewish people and 2% of the Ashkenazi Jewish people will have a BRCA mutation. The estimated cancer risk associated with BRCA mutations vary, however, BRCA1 mutations are estimated to have up to an 85% risk of breast cancer and up to a 60% risk of ovarian cancer, while men with BRCA1 mutations have a slightly increased risk of male breast cancer and approximately a 20% risk of prostate cancer. Women with BRCA2 mutations have up to a 90% risk of breast cancer and up to a 30% risk of ovarian cancer Men with BRCA2 mutations have a 5-10% lifetime risk of developing breast cancer, and approximately a 40% risk of prostate cancer. Individuals with BRCA2 mutations also have an increased risk of pancreatic cancer and possibly other cancers. Women with BRCA gene mutations should have annual breast screening from the age of 30 onwards, including mammograms and breast MRI. Ovarian screening has not been shown to be beneficial and therefore some women may consider risk-reducing surgery. Men may benefit from prostate cancer screening. Occasionally, a baby will inherit two BRCA2 mutations and will therefore have the congenital condition known as Fanconi Anaemia.

Lynch syndrome (LS): LS is the most common hereditary bowel cancer syndrome and is the cause of approximately 1–3% of all bowel cancer. LS causes an increased risk of bowel (25-70%), ovarian (~10%), stomach (5%), womb (30-70%), prostate (18-30%) and other cancers. It has been estimated that in Europe approximately one million people have LS. If someone has LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and, in women, consideration of risk-reducing surgery. 

RAD51C / RAD51D: RAD51C and RAD51D are genes known to cause an increased risk of ovarian cancer. The risk of ovarian cancer has been estimated to be 6-8 times higher than the general population risk which is the equivalent of approximately 10% lifetime risk. Women with RAD51 mutations may wish to have risk reducing removal of the ovaries to lower their risk. Additional breast cancer screening may be helpful.

BRIP1: BRIP1 has shown to cause an increased risk of ovarian cancer. The risk is estimated to be about 11 times higher than the general population with the majority (over 90%) occurring over the age of 50. Women with a BRIP1 mutation may wish to consider having their ovaries removed once they have been through the menopause.

How are these conditions inherited?

Genes come in pairs; we get one copy from our mother and one copy from our father. At present most cancer syndromes are inherited in a dominant pattern. This means that if someone has a mutation in one copy of a gene then there is a 50% chance that they will pass this onto their children. The risk of ovarian cancer can be inherited from either side of the family.