Narrowing down variants for cancer

Queensland researchers have helped to identify 94 genetic variants that increase the risk of developing certain cancers.

Health experts are urging people to do the free screening test for bowel cancer.

Queensland researchers have helped to identify 94 genetic variants that increase the risk of developing certain cancers.

The research, led by QIMR Berghofer Medical Research Institute in Brisbane, also found that hundreds of previously identified genetic variants in the BRCA1 and BRCA2 genes did not cause cancer.

“We were able to weed out 447 variants as harmless, while showing 94 variants did increase a person’s risk of developing breast, ovarian, prostate and pancreatic cancers,” says Amanda Spurdle, who leads the institute’s molecular cancer epidemiology group and is the study’s senior author.

“It’s like separating the wheat from the chaff. These findings will help doctors give advice on the frequency of early screening such as breast scans, preventive measures such as risk-reducing surgery or medication, and even personalised treatment with specific drugs for people with those cancers.

“The genetic information is also used to decide whether to test close relatives, in a bid to prevent or catch disease early. If we can narrow down which variants pose a danger, we can reduce concern for clinicians and patients, and avoid unnecessary testing that unfortunately sometimes occurs for individuals with a variant of uncertain significance.”

Potentially cancer-causing infections are being detected earlier because of the change from pap smear tests to human papillomavirus testing in the National Cervical Cancer Screening Program.

HPV testing every five years represents a “major paradigm shift”, according to research published in the Medical Journal of Australia.

The rate of referral for colposcopy among women of recommended screening age is 2.6 per cent, compared with 0.8 per cent under biennial pap smear tests.

The HPV vaccine, co-developed by Australian Ian Frazer, is expected to all but eliminate cervical cancer. An article in The Lancet Oncology journal in February predicted the vaccine, combined with screening, could prevent up to 13 million cases of cervical cancer worldwide by 2050. In high-income countries, cervical cancer is likely to no longer be a major public health problem within 25 to 40 years.

“This is the kind of news that every cancer researcher lives for,” Karen Canfell from Cancer Council NSW said in February. “It’s incredibly exciting for women all over the world. However, we are only in the early stages of the push towards elimination.”

Health experts are still pushing for people at risk of bowel cancer to complete the free screening test they receive in the mail.

After the Australian Institute of Health and Welfare reported that only 30 per cent of people aged 50 to 54 participated in the program, which extends to age 74, the Cancer Council has urged the community to be more proactive.

“Turning 50 can be a landmark year and we want to remind this group that your risk of bowel cancer increases with age, so it is important to get tested even if you feel healthy and have no symptoms,” Cancer Council Australia chief executive Sanchia Aranda says. “The latest data is a reminder that doing a bowel cancer screening test shouldn’t be seen as an unusual thing to do. We need to normalise the bowel screening test and make sure everyone understands the test is quick, hygienic, and you can complete it in the comfort of your own home.”

In Australia, bowel cancers diagnosed at stage one have a survival rate of 99 per cent, whereas those diagnosed later, at stage four, have a survival rate of 13 per cent.

Cancer Australia has launched Yarn for Life, an initiative to encourage Aboriginal and Torres Strait Islander communities to talk about cancer.

Cancer is the second leading cause of death among indigenous Australians, who on average are 40 per cent more likely than non-indigenous Australians to die from cancer.

Yarn for Life features three individual experiences of cancer that are also stories of hope.

“Yarn for Life aims to reduce feelings of shame and fear associated with cancer and highlights the importance of normalising conversation around cancer and encouraging early detection of the disease,” Monash University pro vice-chancellor (indigenous) Jacinta Elston says. “It also emphasises the value of support along the patient journey.”

Cancer Australia chief executive Helen Zorbas says Yarn for Life was developed by and with indigenous Australians.

“While significant gains have been made with regard to cancer overall, Aboriginal and Torres Strait Islander people continue to experience disparities in cancer incidence and outcomes,” Zorbas says.

“Cancer affects not only those diagnosed with the disease but also their families, carers, elders and community.”