Sun, Apr 30, 2017 | updated 04:54 AM IST

Complex genetic secrets of cancer risk uncovered

Updated: Aug 05, 2016 08:28 IST      
Complex genetic secrets of cancer risk uncovered

Washington D.C, Aug 5 (ANI): A team of researchers has shed light on how our genetic makeup affects our risk of cancer.

In a landmark study of over 1000 sarcoma patients, the researchers from the Garvan Institute of Medical Research uncovered numerous new genetic risk factors for the cancer and in a world first for any cancer type, they showed that carrying two or more of these rare mutations increases an individual's cancer risk.

Sarcomas are cancers of connective tissues that disproportionately affect the young. They are one of the three leading causes of disease-related death among children and young adults in Australia and sarcoma survivors are at higher risk of developing a second cancer.

The new findings relating to cancer risk were uncovered through the International Sarcoma Kindred Study (ISKS), an Australian-led international consortium that is exploring the genetic basis of sarcoma in over 1000 individuals the largest study ever conducted in this disease.

The ISKS team used a 'gene panel' of 72 genes to detect mutations in each study participant. They identified mutations in a number of new genes that significantly increase the risk of developing sarcoma, including in the genes ERCC2, ATR, BRCA2 and ATM.

Importantly, in individuals carrying mutations in two genes, the risk of developing sarcoma was measurably higher than in those with a mutation in only one gene.And in carriers of three or more mutations, the risk was greater still.

"This is the first time - in any cancer - that anyone has quantified the effect of multiple rare genetic mutations on cancer risk," said lead author David Thomas. "Until now, we've been limited to single-gene thinking, so we tell patients, for instance, that carrying a BRCA1 mutation means their breast cancer risk is higher or that their risk of sarcoma and other cancers is higher if they've got a particular mutation in the p53 gene."

Thomas added, "The study shows us that the landscape of cancer risk is far more complex than that. We can now see that the risk for developing sarcoma is increased through the combined effect of multiple genes, and that the more mutations someone carries, the earlier the onset of cancer."

"These previously invisible effects are at least as large as the impact of mutations in the p53 gene itself, which is currently the strongest known genetic cause of sarcoma," he continued.

Mandy Ballinger, who co-ordinates the ISKS globally, said the study will radically change how sarcoma risk is understood.

"We've never been able to identify these at-risk individuals, and their families, before. Now we can," noted Thomas. "That means we can manage risk better, and help those people to get the care they need, when they need it."

As per Thomas, the findings are an important step towards personalised medicine for cancer.

The research is published in the journal The Lancet Oncology. (ANI)

NASA eyes intensifying tropical cyclone 'Frances'

Updated: Apr 29, 2017 11:07 IST     

Washington D.C. [USA], April 29 (ANI): Two NASA satellites have provided forecasters in Australia with visible and rainfall data as tropical cyclone 'Frances' strengthened in the western Timor Sea.

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Oceans at risk due to rising levels of carbon dioxide

Updated: Apr 28, 2017 12:27 IST     

Washington D.C. [USA], Apr 28 (ANI): As the amount of carbon dioxide in the atmosphere increases and the acidity of water changes, it might lead to change in crucial marine process.

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Washington D.C. [USA], Apr 27 (ANI): Animal rights activists have been debating about the use of animals in biomedical research since long but scientists suggest improvements to animal testing protocols could boost credibility and usefulness.

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London [UK], Apr 26 (ANI): As NASA's Cassini Spacecraft enters its final dive, called 'The Grand Finale', into orbiting Saturn's moon, Titan, Google commemorates the occasion by making a special Doodle.

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India's outsized coal plans put Paris climate goals at risk

Updated: Apr 26, 2017 08:34 IST     

Washington D.C. [USA], Apr 26 (ANI): India will not be able to meet its Paris climate agreement commitments in the coming years if it carries through with plans to construct nearly 370 coal-fired power plants, according to University of California, Irvine and CoalSwarm researchers.

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NASA looks at newly formed Tropical Depression 3W in 3-D

Updated: Apr 26, 2017 07:21 IST     

Washington D.C. [USA], Apr 26 (ANI): Tropical Depression 03W formed in the Pacific Ocean west of Guam on April 24, 2017, and data from the Global Precipitation Measurement Mission or GPM core satellite was used to look at the storm in 3-D.

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Researchers relate extreme weather to global warming

Updated: Apr 25, 2017 11:19 IST     

Washington D.C. [USA], Apr 25 (ANI): In the past, scientists typically avoided linking individual weather events to climate change, citing the challenges of teasing apart human influence from the natural variability of the weather. But that is changing.

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Ahmedabad surgeon performs India's 1st robotic surgery

Updated: Apr 24, 2017 18:43 IST     

Ahmedabad (Guajarat) [India], Apr 24 (ANI): A unique robotic surgical procedure, said to be the first of its kind performed in India and third in the world, was recently performed by a doctor at Sterling Hospitals on a 37-year old patient to relieve him of acute pain caused by a rare condition of Median Arcuate Ligament Syndrome.

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This 3-D skin printer can heal severe burns faster

Updated: Apr 23, 2017 07:11 IST     

Washington D.C. [USA], Apr 23 (ANI): A newly-developed method for using a modified printer that covers wounds with healthy skin cells can make the traditional burn treatment a history.

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Turns out, you can 'point out' a man's education

Updated: Apr 21, 2017 14:51 IST     

Washington D.C. [USA], Apr 21 (ANI): Knowing a man's education is as simple as looking at his fingers, according to a recent study.

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Just when you thought brain games made you smarter

Updated: Apr 21, 2017 14:39 IST     

Washington D.C. [USA], Apr 21 (ANI): You may want to be skeptical of ads declaring you can rev up your brain's performance by challenging it with products from the growing brain-training industry, according to a recent study.

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Accomplished female scientists often overlooked

Updated: Apr 21, 2017 14:17 IST     

Washington D.C. [USA], Apr 21 (ANI): Turns out, gender gap still exists in the STEM fields-science, technology, engineering, and mathematics.

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Port Blair [India], April 21 (ANI): In a first of its kind study, peptides, from the venom of cone snails, have been identified that opens up possibilities of drug research for several human ailments.

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Antarctica's biodiversity 'falling between the cracks'

Updated: Apr 20, 2017 22:49 IST     

Washington D.C. [USA], Apr 20 (ANI): The popular view that Antarctica and the Southern Ocean are in a much better environmental shape than the rest of the world has been debunked.

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Washington D.C. [USA], April 18 (ANI): Keep your worries at bay as Azithromycin group of medicine is no more linked to an increased risk of irregular heartbeat, says a study.

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Even with head-up display, texting while driving not safe

Updated: Apr 16, 2017 12:38 IST     

Washington D.C. [USA], Apr 16 (ANI): Despite relatively less distraction from the head-up displays, a recent study has suggested that texting while driving is still a bad idea.

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Now, sketch your way to better learning

Updated: Apr 16, 2017 11:31 IST     

Washington D.C. [USA], Apr 16 (ANI): Sketching exercises can help students learn many subjects, but they are woefully underused in classrooms, according to a recent study.

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Randomness peaks when you're 25

Updated: Apr 16, 2017 10:18 IST     

Washington D.C. [USA], Apr 16 (ANI): 25 is the "golden age," when people's ability to make random choices or mimic a random process, such as coming up with hypothetical results for a series of coin flips, peaks, according to a recent study.

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Why having a 'nice' boss may be 'bad' for you

Updated: Apr 16, 2017 10:02 IST     

Washington D.C. [USA], Apr 16 (ANI): Those feeling stressed at work may want to rethink before blaming their bosses as it turns out, an unsupportive manager can actually be good for you.

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Are you all ears? Your eyes indicate if you are

Updated: Apr 16, 2017 09:06 IST     

Washington D.C. [USA], Apr 16 (ANI): Turns out, the eyes really are a window to the soul as a recent study has found that your pupils give away whether or not you are listening.

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