A new gene associated with hereditary breast cancer susceptibility has been identified in what researchers call a landmark study.
The discovery marks the first time in years that a new susceptibility gene has been identified and brings scientists one step closer to a full understanding of hereditary breast cancer.
Dr. Mohammad Reza Akbari, Associate Professor and Principal Investigator at the University of Toronto, said: The study said in a press release.
About one in eight Canadian women will develop breast cancer in her lifetime, making the disease the leading cause of cancer-related deaths in women worldwide.
This new information released on Monday in the American Journal of Human Geneticswhich could not only open up more gene-focused therapies and therapies, but also enable more frequent and targeted screening for early detection of breast cancer.
This gene is called ATRIP and is associated with DNA stress replication. Although it doesn’t seem to be as common as other genetic mutations associated with hereditary breast cancer, researchers have found that people with mutations in ATRIP have a significantly higher chance of developing breast cancer.
This finding may explain why scientists frequently encounter patients with advanced breast cancer in their families, but have not identified well-known genetic mutations associated with breast cancer, such as BRCA 1 and BRCA 2. None of my family members have it.
“Our lab receives regular referrals from around the world, with multiple members of the same family diagnosed with breast cancer, indicating a genetic predisposition,” said Akbari. “Nevertheless, we are unable to match many of them to known breast cancer genes. Now that ATRIP has been identified, more families will be able to get the answers they deserve.”
Genes in such a family group led them down the path of identifying ATRIP as a gene of concern.
Akbari, also a scientist at Women’s University Hospital, collaborated with Dr. Cezary Cybulski from the Medical College of Pomerania in Poland and Dr. Jean-Yves Masson from Laval University in Quebec to sequence the genes of 510 women with hereditary breast cancer. rice field. Poland.
This group was matched with 308 control subjects to identify which genes differed.
Two of the 510 women had a rare mutation in ATRIP. From this small starting point, researchers scanned data from an additional 16,000 Polish breast cancer patients and found 42 genetic mutations.
To further confirm that, the researchers looked at data from the UK Biobank, a database containing health information on 450,000 people.
They found that certain mutations in ATRIP were significantly predictive of breast cancer development, and that it did not simply affect women of Polish descent.
ATRIP is important in the process of specialized proteins that bind to single-stranded DNA where DNA replication has stalled. Appropriate activation of this gene helps induce a damage response when the DNA replication process is stressed. Essentially, this gene must function properly to signal the body after DNA damage and for proteins to bind correctly.
All cancers are caused by changes in DNA that cause cells to divide uncontrollably and spread to other tissues of the body, forming what are known as tumors.
Isolation of the new gene as one of the issues to watch out for, researchers believe will lead to better treatments for those who carry this gene and who actually develop breast cancer.
“Although further research is needed, it is already clear that certain forms of chemotherapy are particularly effective against breast tumors with homologous recombination deficiency (HRD) observed in patients with mutated ATRIP genes. I know,” said Akbari. “As a result, patients with ATRIP mutations will receive more personalized and precise care from our clinical team, improving their chances of outcome and survival.”
Now, to better understand the impact of ATRIP on cancer development, Akbari said, the team is looking at more families in the databank with hereditary breast cancer to find more ATRIP matches. Scanning.
“We know that identifying this genetic mutation will have a meaningful impact on everyone affected by familial breast cancer,” he said.
