Wednesday, Apr 30 2025 | Time 09:09 Hrs(IST)
WorldPosted at: Apr 29 2025 6:15PM


Australian researchers advance genetic tools to better predict inherited cancer risk

Sydney, Apr 29 (UNI) Medical researchers have developed advanced computational tools that significantly improve the accuracy of genetic testing for inherited cancer risk, an Australian government research institute has revealed.
The accuracy of genetic testing has been significantly improved particularly in people with Li-Fraumeni Syndrome, a rare, inherited cancer predisposition syndrome caused by faults in the TP53 gene, which significantly increases the risk of developing multiple types of cancer, according to a news release of the QIMR Berghofer (formerly the Queensland Institute of Medical Research) on Monday.
The study by researchers at QIMR Berghofer, collaborating with Spain's Hospital Clinico San Carlos and US--based Ambry Genetics, shows how integrating new computer-based predictions with existing genetic models enhances the classification of genetic variants, helping distinguish between harmless mutations and those likely to cause cancer.
These improved methods can guide more accurate diagnoses and enable targeted clinical management, such as early screening and preventative treatment, said the study published in the American Journal of Human Genetics.
"Li-Fraumeni Syndrome is rare, but for the people affected it's extremely important to give them certainty," said lead author Nitsan Rotenberg from QIMR Berghofer.
Accurately identifying harmful variants allows individuals to receive intensive monitoring and early interventions, Rotenberg said.
Their approach includes using tools that predict structural changes in proteins caused by gene variants and assess how these changes affect protein stability. This combined method reduces uncertainty around TP53 variants, crucial for high-risk families where the chance of developing cancer by age 60 can be as high as 95 percent, said the research team led by QIMR Berghofer Prof Amanda Spurdle.
Using protein structure predictions enhances the ability to interpret the growing number of unclassified variants, ultimately improving care and informing global clinical guidelines, Spurdle said.
UNI XINHUA AKT SS
Tags: #Australian researchers advance genetic tools to better predict inherited cancer risk
More News
14 killed in suspected terrorist attack in north Nigeria

14 killed in suspected terrorist attack in north Nigeria

30 Apr 2025 | 9:04 AM

Abuja, Apr 30 (UNI) At least 14 people were killed in an attack by suspected terrorists who attacked a community in Borno, one of the restive states in Nigeria's northern region, local authorities said Tuesday.

see more..

Trump administration sacks all authors of lead climate report

30 Apr 2025 | 3:18 AM

Washington, Apr 29 (UNI) US President Donald Trump's administration has sacked all scientists and other authors working on the next authoritative look at how climate change is affecting the United States.

see more..

Trump calls Bezos after reports claimed Amazon mulling displaying added cost of tariff

30 Apr 2025 | 3:01 AM

New YorK, Apr 29 (UNI) Taking strong exception to e-commerce platform Amazon reportedly mulling displaying the added cost of tariffs, imposed by US President Donald Trump, on certain items, the White House took aggressive aim at Amazon, with Trump himself putting in a call to Amazon founder Jeff Bezos Tuesday morning,.

see more..
Awami League says there is ‘No Rule of Law’ in Bangladesh anymore, cites Supreme Court lawyer

Awami League says there is ‘No Rule of Law’ in Bangladesh anymore, cites Supreme Court lawyer

29 Apr 2025 | 9:43 PM

Dhaka, Apr 29 (UNI) Bangladesh’s Awami League party has sharply criticised the deterioration of the judiciary in the country under the interim government led by Chief Advisor Mohammed Yunus, saying that there is ‘No Rule of Law’ in the country anymore, citing the statement by a Supreme Court lawyer.

see more..
Pro-Khalistan MP Jagmeet Singh’s loss in Canada could prove a boon in Indo-Canada relations

Pro-Khalistan MP Jagmeet Singh’s loss in Canada could prove a boon in Indo-Canada relations

29 Apr 2025 | 8:48 PM

Ottawa, Apr 29 (UNI) In a decisive outcome in Canada’s federal elections, pro-Khalistan leader Jagmeet Singh stepped down as New Democratic Party (NDP) leader after his party saw its worst ever poll drubbing. This could potentially be good for Indo-Canadian relations which have seen a sharp downturn in recent years, due to Canada’s pandering of Khalistani elements.

see more..