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Some risk factors for breast cancer — such as diet, exercise or hormone medications — are preventable. But others, like certain genetic mutations, can’t be changed.
It’s already known that some genes can predict the likelihood of breast cancer. Women with a mutation in the BRCA1 or BRCA2 gene, for example, have a 70% risk of developing the disease, according to the American Cancer Society.
Now, in what they’re describing as a landmark study published in The American Journal of Human Genetics on Monday, researchers have identified a new gene that predicts the likelihood of hereditary breast cancer.
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People who have mutations in a gene called ATRIP are at a significantly higher risk of developing the disease, researchers said.
ATRIP mutations, though, aren’t as prevalent as the ones that can occur in the BRCA1 or BRCA2 genes.
The ATRIP gene’s job is to prevent something called replicative stress, which is a big driver of cancer development.
That’s according to Dr. Jenn Simmons, a functional medicine physician and integrative oncologist at Real Health MD in King of Prussia, Pennsylvania, explained to Online News 72h Digital.
“In other words, when a cell duplicates, this gene protects against mistakes at that stage,” Simmons told Online News 72h Digital (she was not involved in the study). “Someone with the ATRIP gene mutation will be more susceptible to these replicating errors.”
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Genes, however, are only one part of the equation, she added. Environment and lifestyle health also play a role in the outcome.
Study focused on Polish women with family history
The study’s research team — led by Dr. Mohammad Reza Akbari, Women’s College Hospital scientist and an associate professor at the University of Toronto — discovered ATRIP when performing genetic testing on a group of women in Poland who had a family history of breast cancer.
About 10% of all breast cancer cases are hereditary.
Next, the researchers analyzed a larger group of Polish women with breast cancer. They also studied genetic data from breast cancer patients in the U.K. Biobank, a large database containing medical information from 500,000 U.K. participants.
“We know that genetics play an important role in the likelihood of developing breast cancer, with hereditary breast cancer accounting for roughly 10% of all cases,” said Akbari in a press release announcing the findings.
“Now that ATRIP has been identified, more families will be able to get the answers they deserve.”
“This research highlights how important it is for physicians to take a detailed family history for all individuals to learn about their risk factors, and to inform recommendations regarding genetic counseling and further testing,” Dr. Monique Gary, medical director of the cancer program at Grand View Health in Sellersville, Pennsylvania, told Online News 72h Digital.
“The implications are important not just for risk assessment and reduction, but to also assess treatment options that may specifically target germline mutations,” added Dr. Gary, who was not involved in the study.
She said the knowledge gained in the study potentially could improve treatments and raise survival rates.
Results are promising, yet more research is needed
Although these findings could mark an important step in understanding the hereditary and genetic causes of breast cancer, Dr. Gary noted that the research is still in its early stages.
“Given the homogeneity of the participants assessed, we should also continue to advance research in populations where there is a higher burden of disease and mortality to understand why these disparities exist,” she said.
“Now that ATRIP has been identified, more families will be able to get the answers they deserve.”
Louise Morrell, M.D., medical director of Lynn Cancer Institute, part of Baptist Health South Florida, pointed out that the study has two key limitations.
“First, the author acknowledges that this is a small population that has a very similar genetic background,” she told Online News 72h Digital.
“A study of larger populations will help validate these findings.”
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Morrell also said more data is needed about this new gene and the level of increased risk.
“For example, BRCA [mutations] cause a woman to have up to an 80% risk, but other breast cancer genes may only cause a woman to have a 20% risk,” she said.
With testing methods always evolving, Morrell called for anyone with a family history of cancers to check in with their physician periodically, even if they tested negative in the past.
The research team believes the new discovery will “have a meaningful impact on all those affected by familial breast cancer,” but it plans to continue more analysis of the gene.
“Right now, we are screening families in our data bank that have familial breast cancer to see if they match for ATRIP,” Akbari said in the press release.
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“Going forward, our team will continue to investigate further, leveraging DNA data sets across the globe to better understand ATRIP and its impact.”
Simmons, for her part, is hopeful that discovering genetic mutations such as the one found in ATRIP could lead people to take a more active role in their health.
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Aside from skin cancers, breast cancer is the most common type among U.S. women, accounting for about 30% of all new female cases each year, per the American Cancer Society.
There is about a 13% chance that any given woman will develop breast cancer in her lifetime.
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