Hereditary Cancer

Scientists have long known that there is a link between inherited mutations in the BRCA genes (known as BRCA1 and BRCA2) and an increased risk of breast and ovarian cancers. But these same genetic mutations are implicated in several other types of cancer, too, including prostate cancer, pancreatic cancer and fallopian tube cancer.

Genetic testing could help to highlight people at increased risk, enabling them to take proactive steps to protect themselves, such as undergoing regular screening.

Genetic mutations in pancreatic cancer

A recent study presented at the American Society for Clinical Oncology’s annual meeting in June has important implications for people with pancreatic cancer who have a BRCA1 or BRCA2 mutation and whose cancer has spread beyond the pancreas (referred to as metastatic pancreatic cancer).

Pancreatic cancer is usually diagnosed in the later stages when the prognosis is poor, so this study is significant for people with the disease. 

The study

Researchers found that patients with a germline BRCA mutation and metastatic pancreatic cancer who were treated with a therapy called olaparib* had a reduced risk of disease progression or death. The study involved 154 pancreatic cancer patients who had received platinum-based chemotherapy and whose cancer had not progressed. They were randomly assigned either to receive either olaparib or a placebo. After two years, 22.1% of the patients receiving olaparib had not seen any worsening of their disease compared to 9.6% of those receiving the placebo.Researchers concluded that platinum-based chemotherapy followed by maintenance olaparib offered the best change of survival for more than a year. 

Cancer Screening

Director of the Pancreatic Cancer Centre at NYU Langone Health’s Perimutter Cancer Centre in New York, Dr Diane Simeone pointed out that if someone has a BRCA2 mutation, even if they don’t have a family history of pancreatic cancer, their lifetime risk of getting pancreatic cancer is around 6-7%.

If there is a family history of pancreatic cancer, the risk is even higher. She called for people at high risk of pancreatic cancer to be screened for the disease.

Genetic testing for cancer

Genetic testing is increasingly being used to discover hereditary forms of cancer, including BRCA1 and BRCA2 gene mutations. Dr Simeone said that germline testing is now recommended in all patients who present with pancreatic cancer, according to new guidelines. 

BRCA mutations impair proteins in the body that are responsible for helping to repair damaged DNA. This put a person at higher risk of developing cancer.

Thankfully, BRCA mutations are relatively rare, but if there is a family history, genetic testing is recommended to ascertain if an individual is at increased risk.

Genetic testing uses a simple cheek swab to check for changes in a person’s genes, chromosomes or proteins. These changes are called mutations and they can help to estimate your chances of developing certain types of cancers, which are known to be caused by genetic mutations.

A genetic test cannot predict with certainty that you will get cancer but it can show if you are at higher risk than the rest of the population. Generally, the earlier a cancer is detected the higher the success rate of treatment, as is shown in the chart below. 


Benefits of genetic testing

People who have a positive test for BRCA1 and BRCA2 genetic mutations may choose to:

  • Have regular screening so that cancer can be detected in its early stages when treatment is likely to be most successful.
  • Make lifestyle changes such as eating a healthy balanced diet, taking regular exercise, losing weight or giving up smoking.
  • Take preventative medication prescribed by a doctor which may help to reduce their cancer risk.
  • Talk to their children and other family members about their own increased risk of cancer and encourage them to take a test. Parents, siblings and children of someone with a positive hereditary cancer test may have up to a 50% chance of carrying the same mutation.
  • Take complete preventative measures such as to remove the ovaries and / or Fallopian tubes after family planning is over (and after 40 years of age). When BRCA gene mutations are detected, surgery like this (as well as a mastectomy for breast cancer), doesn’t just lower the risk, but prevents it completely and can be life-saving.

How it works

Myogenes offers of the most comprehensive tests for hereditary cancer. It looks for mutations in 98 genes that are known to be linked to 25 types of cancer.

We also offer a specific hereditary breast cancer test, which includes assessing for BRCA1 and BRCA2 mutations.

Because of the nature of these tests, they can only be carried out by a GP, clinician or by Myogenes in-house consultant as the results need a level of interpretation. Finding out about genetic risk can be a worrying time so it is important that the results are put into context by a medical professional.

The test is quick and painless, using a simple saliva sample which is sent off to the laboratory for testing. A report is sent to your GP detailing the presence of absence of mutations associated with an increased cancer risk. It also includes a personalised health risk management plan that will enable you to discuss with your doctor any measures you need to take to take control of your health.


Next steps

For more information about hereditary cancer testing, speak to your GP, consultant or clinician, or call the friendly team at Myogenes.


*Olaparib is approved by the US Food and Drug Administration for maintenance treatment of adult patients with BRCA-mutated advanced cancer of the ovaries or fallopian tubes or primary peritoneal cancer who have previously responded to platinum-based chemotherapy.