Hereditary Cancer

Research has thrown new light on the genetic variants that can increase your risk of developing bowel cancer. A study, led by a team of researchers at Fred Hutchinson Cancer Research Centre, highlighted the key role played by genetics in some types of colorectal cancer. It could provide vital new insights into why some people are more likely than others to develop the disease.

40 new genetic variants affecting colorectal cancer risk

It was the most comprehensive genome-wide association study (GWAS) of colorectal cancer risk to date. The results, published in Nature Genetics at the end of 2018, identified 40 new genetic variants linked to an increased risk of bowel cancer and validated a further 55 that had previously been identified.

The researchers also identified the first rare protective variant for sporadic colorectal cancer. These types of cancers, which account for the vast majority of bowel cancers, have no know familial link.

Scientists have hailed the findings as a significant step forward in the move towards personalised screening for bowel cancer and said they would also help to inform the development of new drugs.

Drug development

The authors referred to “a missed opportunity” in drug development after identifying a number of loci (the location of the gene on a chromosome) in pathways that, until now, were not known to be causally linked to bowel cancer.

This information, they believe, could be used to improve the success rate of new cancer drugs and could even lead to chemoprevention drugs for people at high risk of bowel cancer.

Up until now, the development of most new cancer drugs has focused mainly on the molecular characteristics of cancer cells. Using GWAS information could create a new generation of anti-cancer drugs.

Personalised cancer screening

For individuals with a family history of bowel cancer, genetic screening is already a reality and it provides an accurate predictor of individual bowel cancer risk.

This is because certain genetic mutations are responsible for causing hereditary bowel cancer.

Between two and five per cent of bowel cancers are inherited and if you have a close family member with the disease you are 30% more likely to develop it than the rest of the population.

Our Hereditary Cancer Test is one of the most comprehensive tests on the market, analysing 98 genes from a person’s DNA to assess their risk of developing 25 different forms of hereditary cancer.


It works like this….

Your doctor collects a saliva sample from you and sends it off to the CLIA-certified laboratory where specialist technicians analyse it and prepare a detailed test report and personalised health risk management plan.

Watch our video to find out more >

Lifestyle choices – taking life into your own hands

Knowing that you have an increased risk of developing bowel cancer enables you to make certain lifestyle choices. It will be important to have regular screening, for example, so that any early signs of the disease can be picked up before it is able to spread.

You may wish to amend your diet or exercise habits, maintain a healthy weight and quit smoking.

Your doctor may even prescribe certain kinds of preventative medications. If you have children or siblings they are also at higher risk and you may wish to recommend they take a genetic test and develop a management plan of their own.

For more information about genetic testing for bowel cancer, speak to your GP, consultant or clinician, or call the friendly team at Myogenes and we would be happy to answer your questions.