Breast cancer: Scientists identify multiple genetic risk factors

For the study, researchers analyzed genetic data on 26,368 women with breast cancer and 217,673 without. The women were primarily European, although the researchers included data from Malaysia and Singapore as well.

After analyzing the data, they identified 30 genes associated with breast cancer, of which six were highly significant. These include five known susceptibility genes and one new gene: MAP3K1.

When the researchers limited their analysis to patients aged 50 and under, they identified 40 genes associated with breast cancer.

“Although many of the variants identified in these new genetic variants are rare, the risks can be significant for women who carry them. For example, a mutation in a new gene, MAP3K1it appears to cause a greater risk of breast cancer,” said Dr. Jacques Simard, Ph.D., professor of medicine at the Laval Research Center of Québec-Université, in a press release.

MNT asked Dr. Jessica Jones, assistant professor of oncology and McGovern Medical School at UTHealth Houston, who was not involved in the study, about its limitations.

He pointed out that since the study mainly included women from Europe, the results may not apply to a different population.

“For example, this article does not pay attention to important genes, such as STK11 and TP53, because they are rare in Europe. They are not that rare here in the United States. These things have a high risk of cancer,” he said.

He added that the study did not take into account how lifestyle factors such as obesity or alcohol consumption may affect breast cancer risk or genetic expression.

MNT He also spoke with Dr. Ora Karp Gordon, regional director of clinical genetics and genomics of Providence Southern California and Professor of Genetics at Saint John’s Cancer Institute in Santa Monica, California, who was also not involved in the study, about its limitations.

“The most important gene for breast cancer MAP3K1 estimated to explain 0.14% of breast cancer risk, with all other genes combined [accounted for less than 1% of increased risk]. Therefore, if this method can lead to meaningful progress from a cost and data perspective it is a big thing to know, [and perhaps unlikely],” said Dr. Gordon.

He added that the study only investigated the coding regions of the genome and not other regions.

“Despite more than a decade of using next-generation sequencing methods to investigate cancer susceptibility genes, more than 30% of the familial risk of breast cancer remains unknown,” said Dr. Gordon.

He noted that this means that current genetic testing may not respond to many breast cancer cases.

“Much of the missing ‘heritability’ of breast cancer risk may be in the untranscribed genome and therefore only discovered through whole genome sequencing, which is often inexpensive at scale,” he added.

Dr Jones noted that there is much to be learned about genetics and until they are ‘fully understood’, genetic testing will not be offered to all people.

“The woman’s family history proves this point. It doesn’t matter if we know the DNA make-up of a woman, if she has a strong family history [of breast cancer], you may be eligible for improved breast cancer screening. “If a woman reading this article is wondering if her family has a genetic defect, science may need time to trace all the genes—but she doesn’t have to wait for more breast cancer screening.”
– Dr. Jones

“To confirm this method [with other demographics and datasets could significantly improve breast cancer risk assessments] for many women who have a personal or family history [of the condition] but they had negative genetic test results,” said Dr. Gordon.

Meanwhile, Dr. Jones said, “The study sheds new light on the risk of breast cancer ATRIP, MAP3K1and the SAMHD1 gene.”

“If a woman with breast cancer takes a genetic test and goes [the risk variant]we can give a test to his family to see if there are any children who have received the inheritance [it]. If the child has inherited [a risk variant]”We can change the way we look at breast cancer to include improved screening with breast MRI,” he concluded.