Sarah Beck answers your questions about the risks of inheriting and the benefits of testing for ovarian gene variants.

What is ovarian cancer genetic testing?

Ovarian cancer is the sixth most common cancer in women. In the general population, women have a 1.5% chance of developing ovarian cancer, with 75% being diagnosed after the age of 55. Most ovarian cancers occur by chance, however up to 20% is hereditary and in some families, it may be possible to find the genetic change (pathogenic variant) which is responsible for the cancer.

Genetic testing can be carried out to identify if a person has an inherited genetic predisposition to developing ovarian cancer, and this involves reading through specific genes looking for spelling mistakes or ‘variants’ that stop the gene from working.

How do I know if I’m at risk?

In some families with hereditary ovarian cancer, it may be possible to find the genetic variant that is responsible for the cancers.

Families with hereditary ovarian cancer may also present with:

• Breast cancer diagnosed before the age of 45/bilateral breast cancer/male breast cancer;
• Jewish ancestry and a history of breast/ ovarian/prostate cancer;
• Bowel and or womb cancer diagnosed at a young age (before the age of 50).

How are ovarian cancer gene variants inherited?

Genes come in pairs; we get one copy from our mother and one copy from our father. Most, but not all most cancer predisposition syndromes are inherited in a dominant pattern. This means that if someone has a pathogenic variant in one copy of a gene pair, there is a 50% chance that they will pass this onto their children. The gene variant can be inherited from either side of the family.

The diagram below illustrates this:

What genes does ovarian cancer genetic testing look for?

OvarianGene examines the DNA code of ten genes which includes the BRCA1 and BRCA2 genes. The other genes included on this panel are PALB2, RAD51C, RAD51D, BRIP1, MLH1, MSH2, MSH6 and EPCAM.

What are the benefits of genetic testing for ovarian cancer gene variants?

Genetic testing may help to determine the cause of ovarian cancers in a family and in turn, this may influence treatment options.  Genetic testing may also help to determine the risk of developing other types of cancer and guide appropriate cancer screening. Depending on the specific gene variant, different cancer screening tests may be arranged, and risk-reducing strategies may be considered.

What are the typical symptoms of ovarian cancer?

The typical signs and symptoms of ovarian cancer are:

• Increased abdominal size/significant bloating that does not come and go;
• Difficulty eating/feeling very full after a small meal;
• Abdominal/pelvic pain;
• Needing to pass urine more urgently or more frequently.

Most of the time, people with these symptoms will not have ovarian cancer, but it is always important to get them checked out.  If you are concerned about any of these symptoms, please contact your GP.