'It could be catastrophic': Woman says natural supplement contained hidden painkiller drug
A Manitoba woman thought she found a miracle natural supplement, but said a hidden ingredient wreaked havoc on her health.
A new gene connected to hereditary breast cancer susceptibility has been identified in what researchers are calling a landmark study.
The discovery marks the first time in years that a new susceptibility gene has been pinpointed, allowing scientists to get one step closer to a full understanding of hereditary breast cancer.
“We know that genetics play an important role in the likelihood of developing breast cancer, with hereditary breast cancer accounting for roughly ten per cent of all cases,” Dr. Mohammad Reza Akbari, associate professor at the University of Toronto and the principal investigator of the study, said in a press release.
Around one in eight women in Canada will develop breast cancer in their lifetime, with the disease accounting for the highest amount of cancer-related deaths in women globally.
This new information, published Monday in the American Journal of Human Genetics, could allow for more frequent and targeted screening to catch breast cancer earlier, as well as opening up more therapies or treatments that focus on genes.
The gene is called ATRIP, and is linked to DNA stress replication. It appears to be less common than other gene mutations linked to hereditary breast cancer, but when a person has mutations in ATRIP, they are significantly more likely to develop breast cancer, researchers found.
The discovery could explain why scientists frequently encounter patients where breast cancer runs in the family, but none of the family members have well-known gene mutations connected to breast cancer, such as BRCA 1 and BRCA 2.
“Our lab regularly receives referrals from all over the world, where multiple members of the same family are diagnosed with breast cancer, indicating a genetic predisposition,” Akbari said. “Despite this we are unable to match many of them with known breast cancer genes. Now that ATRIP has been identified, more families will be able to get the answers they deserve.”
It was the genes of a group of such families that put them on the path towards identifying ATRIP as a gene of concern.
Akbari, who is also a scientist with the Women’s College Hospital, worked with Dr. Cezary Cybulski at Pomeranian Medical University in Poland and Dr. Jean-Yves Masson from Laval University in Quebec to examine the genetic sequencing of 510 women with hereditary breast cancer in Poland.
This group was matched with 308 control subjects to isolate which genes were different.
There were two women out of the 510 who had the rare mutation in ATRIP. From this small starting point, researchers were able to scan through data on 16,000 further Polish patients with breast cancer, finding the gene variation in 42.
To further confirm it, researchers then looked at data in the U.K. Biobank, a database containing health information on 450,000 individuals.
What they found was that certain mutations in ATRIP were significantly predictive of breast cancer development, and that it wasn’t merely affecting women of Polish descent either.
ATRIP is critical to the process of specialized proteins binding to single-stranded DNA where DNA replication has stalled — when this gene is properly activated, it helps elicit a damage response if there is stress in the replication process of the DNA. Essentially, this gene needs to be functioning correctly to signal to the body after DNA damage, and for proteins to bind correctly.
All cancers are caused by changes in DNA that lead to cells dividing uncontrollably and spreading into other tissues of the body, forming what we know as tumours.
With the isolation of a new gene as one of the problem spots to look out for, researchers believe it will lead to better treatment for those who have this gene and do develop breast cancer.
“While further research is needed, we already know that specific forms of chemotherapy are particularly effective against the breast tumours with homologous recombination deficiency (HRD) observed in patients with a mutated ATRIP gene,” Akbari said. “As a result, those with the ATRIP mutation will now be able to receive more tailored and precise care from their clinical teams – improving their outcomes and chance of survival.”
Currently, Akbari said the team is scanning more families in its data bank with hereditary breast cancer in order to find more matches for ATRIP to better understand its impact on the development of the cancer.
“We know that identifying this genetic mutation will have a meaningful impact on all those affected by familial breast cancer,” he said.
A Manitoba woman thought she found a miracle natural supplement, but said a hidden ingredient wreaked havoc on her health.
Police have released video footage of a dramatic takedown of a group of teens wanted in connection with an attempted carjacking in Markham earlier this month.
Hospital chaplain J.S. Park opens up about death, grief and hearing thousands of last words, and shares his advice for the living.
Group of Seven foreign ministers warned of new sanctions against Iran on Friday for its drone and missile attack on Israel, and urged both sides to avoid an escalation of the conflict.
The World Health Organization is likely to issue a wider warning about contaminated Johnson and Johnson-made children's cough syrup found in Nigeria last week, it said in an email.
Several Nova Scotia groups that assist women are speaking out against comments on domestic violence by Justice Minister Brad Johns, and at least one is calling for his dismissal.
A family trip took a frightening turn for Christopher Won when he was diagnosed with flesh-eating disease while in Hong Kong and now, after weeks of treatment overseas, the Vancouver firefighter is back home recovering.
Every good wedding has to have one teensy, tiny crisis.
A woman who recently moved to Canada from India was searching for a job when she got caught in an online job scam and lost $15,000.
At 6'8" and 350 pounds, there is nothing typical about UBC offensive lineman Giovanni Manu, who was born in Tonga and went to high school in Pitt Meadows.
Kevin the cat has been reunited with his family after enduring a harrowing three-day ordeal while lost at Toronto Pearson International Airport earlier this week.
Molly Knight, a grade four student in Nova Scotia, noticed her school library did not have many books on female athletes, so she started her own book drive in hopes of changing that.
Almost 7,000 bars of pure gold were stolen from Pearson International Airport exactly one year ago during an elaborate heist, but so far only a tiny fraction of that stolen loot has been found.
When Les Robertson was walking home from the gym in North Vancouver's Lower Lonsdale neighbourhood three weeks ago, he did a double take. Standing near a burrow it had dug in a vacant lot near East 1st Street and St. Georges Avenue was a yellow-bellied marmot.
A moulting seal who was relocated after drawing daily crowds of onlookers in Greater Victoria has made a surprise return, after what officials described as an 'astonishing' six-day journey.
Just steps from Parliament Hill is a barber shop that for the last 100 years has catered to everyone from prime ministers to tourists.
A high score on a Foo Fighters pinball machine has Edmonton player Dave Formenti on a high.
A compound used to treat sour gas that's been linked to fertility issues in cattle has been found throughout groundwater in the Prairies, according to a new study.