Groundbreaking Study Uncovers 72 New Breast Cancer Mutations


A comprehensive knowledge of the risk of breast cancer can lead to better screening.

Understanding the underlying mechanisms of a disease—including risk factors—could result in better prevention and treatment strategies.

A new study published by Nature and Nature Genetics suggests that 72 recently-discovered genetic mutations may be involved with increasing the risk of breast cancer. These findings represent significant progress against the deadly disease, according to the study authors.

“This work helps us to understand why some women are more at risk of developing breast cancer than others and what genetic markers we should be looking for in order to assess that risk,” said researcher Georgia Chenevix-Trench, PhD.

In the study, the authors analyzed data from 275,000 women from around the world.

The investigators found 65 genetic variants that increase the risk of breast cancer, while another 7 increase the risk of estrogen-receptor (ER) negative breast cancer, according to the study. Since ER-negative breast cancer is related to worse health outcomes, identifying high-risk patients may lead to early diagnosis and better survival, the study suggests.

“We know that breast cancer is caused by complex interactions between these genetic variants and our environment, but these newly discovered markers bring the number of known variants associated with breast cancer to around 180,” Dr Chenevix-Trench said. “Our hope is that in future we will be able to test for these genetic variants in order to inform preventative approaches and treatment for women who may be at a higher risk of breast cancer.”

The authors found that inherited breast cancer risk was composed of rare gene variants that greatly increase the risk of breast cancer and others that only slightly affect risk, according to the study.

These findings may also allow researchers to better predict which nearby genes the risk variants may harness to increase breast cancer risk, according to the authors.

“We were able to show for the first time that these risk genes are often the same ones that are mutated during the development of breast tumours [sic], which tells us much more than we knew previously about the genetic mechanisms that may cause breast cancer,” said researcher Dr Jonathan Beesley. “We think that this ability to pinpoint the genes associated with risk of breast cancer will eventually enable us to develop more effective screening interventions and even risk-reduction medications and treatments.”

The authors note that a more in-depth understanding of breast cancer can result in more rigorous screening recommendations. The hope is that better screening will catch cancers earlier and lead to more optimal outcomes, according to the authors.

“Many women are offered mammogram screening when they are middle-aged, but if we know a woman has genetic markers that place her at higher risk of breast cancer, we can recommend more intensive screening at a younger age,” Dr Chenevix-Trench said.

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