Researchers have identified one of the genes linked to hereditary breast cancer, in a Canadian-led study that could open the door to future gene therapies for women susceptible to the disease.
The study by Canadian and Polish researchers found a strong link between mutations in the gene called RECQL and the onset of breast cancer among Polish and French-Canadian women. The gene is just one of many believed to carry a link to hereditary breast cancer, which causes about 10 per cent of all breast cancer cases.
Lead author Dr. Mohammad Akbari said the results could lead to new treatments that would correct risky gene mutations in women. "It will be useful both for preventing the cancer and also treating it in a better way," Akbari told CTV News Channel on Monday.
Akbari spearheaded the study through his work at Women's College Hospital in Toronto, in collaboration with doctors at the University of Toronto, McGill University in Montreal and Pomeranian Medical University in Poland.
Researchers examined 20,000 different genes in 195 Polish and French-Canadian breast cancer patients with histories of the disease in their families. Researchers compared their results to 25,000 other patients and people unaffected by the disease to establish a baseline for the two populations.
They found women with mutated RECQL genes were far more likely to develop breast cancer than those without a mutation.
One mutation of the gene increased the chances five-fold among Polish women, while another mutation of the same gene made breast cancer 50 times more likely among the French-Canadian women.
Researchers said the mutations were "quite rare," but estimated up to half the women with mutated RECQL genes are "destined to get breast cancer."
Scientists have identified about 50 per cent of the genes that are susceptible to breast cancer-causing mutations. However, it's been eight years since the last risky gene was identified.
Akbari says each newly-identified gene brings doctors closer to treating the disease in diagnosed patients and undiagnosed women who carry the mutation.
"There are many things we can do for them," he said.
Akbari said it would be helpful for doctors to screen breast cancer patients for genetic mutations such as the ones identified in RECQL.
"In the future, we might be able to select or develop treatments that can work around or correct relevant genetic mutations that are linked to breast cancer," he said in a statement.
Those treatments could include preventive measures for undiagnosed women with the risky mutation, including a pre-emptive double mastectomy.
“This study showed that studying specific founder populations like Polish and French-Canadian women is an excellent approach for identifying disease-associated genes,” said Dr. Steven Narod, director of familial breast cancer research at Women’s College Research Institute.
Akbari says that doctors can offer "more targeted treatment" for breast cancer patients with known mutations.
The study is published in Monday's edition of the journal Nature Genetics.
With files from The Canadian Press
