Published: Sat, January 20, 2018
Medicine | By Brett Sutton

Calls to check ladies over 30 for defective most cancers gene

Calls to check ladies over 30 for defective most cancers gene

"While this approach could give more women the choice to know whether they are at an increased risk of cancer due to their genes, whole-population screening is also not without its challenges and risks". Most women will not have a genetic fault that increases their risk of breast cancer, but identifying those who do is crucial as they can take steps to reduce their risk and detect any possible signs or symptoms earlier.

Carriers of either gene have a 17-44 per cent chance of developing ovarian cancer and a 69-72 per cent chance of developing breast cancer over their lifetime.

The study was carried out by researchers from the Cancer Research UK Bart's Centre at Queen Mary University London, and was funded by The Eve Appeal charity.

Having a faulty BRCA gene - either BRCA1 or BRCA2 - is known to increase a woman's risk of both cancers, although the exact percentage of risk increase is still unclear.

New research suggests that more than 80,000 cases of cancer could be prevented if ALL woman over the age of 30 were offered screening for gene mutations. "And the information that you get is very powerful for you because you can take risk reducing decisions and prevent those cancers from developing".

Both mutations are known to significantly increase the risk of a woman developing breast or ovarian cancer (or, in some cases, both).

Currently, women with strong clinical criteria and a family history of cancer greater than 10% are offered gene testing (BRCA1/BRCA2 testing).


When women are diagnosed they can be monitored more closely for cancer and many, like Angelina Jolie, have preventive surgery. "However, genetic tests are generally not included when breast cancer is the predominant cancer in a family".

The total cost of screening all 27 million women over 30 in the United Kingdom was estimated to be around £3.5 billion.

The researchers used mathematical models to compare costs and health benefits of different strategies for genetic testing.

He added: "Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes across the entire population, beyond just the current criteria-based approach".

But if that strategy were to be rolled out, it wouldn't be without its problems, both practically and morally, cautions Justine Alford of Cancer Research UK. "We still need to understand how to deliver it". This could prevent thousands more breast and ovarian cancers than any current strategy, saving many lives.

Despite these limitations, this study provides promising evidence that the new genetic test may help identify more people with breast and ovarian cancer. "MSH6 and PMS2 are associated with an increased risk for breast cancer and should be considered when ordering genetic testing for individuals who have a personal and/or family history of breast cancer", lead author Maegan Roberts said in the journal statement.

Like this: