Investigators Map Genetic Variants Linked to Breast Cancer
Posted: Monday, March 9, 2020
A genome-wide association study may have identified more than 350 genetic variants, “or risks,” that increase the chances of developing breast cancer. Laura Fachal, PhD, of the University of Cambridge, England, and colleagues claim that the results provide the most comprehensive map of breast cancer risk variants. Their study findings were presented in Nature Genetics.
“This incredible haul of newly discovered breast cancer genes provides us with many more genes to work on, most of which have not been studied before,” coauthor Alison Dunning, PhD, also of the University of Cambridge, said in an institutional press release. “It will help us build up a much more detailed picture of how breast cancer arises and develops.”
In this study, which included input from hundreds of international researchers, the investigators compared the DNA of 110,000 patients with breast cancer with that of 90,000 healthy patients. They defined 205 independent risk-associated signals with a set of credible casual variants from 150 genomic regions.
Ultimately, 352 risk variants were identified; and the researchers are “reasonably confident” they have identified 191 genes that are targeted. Previously, fewer than one in five of these genes were recognized.
In these recognized genetic variants, one-third are predisposed toward women for developing hormone-responsive breast cancer. The authors found that 15% of the genetic variants are predisposed toward women with estrogen receptor–negative breast cancer. The remaining variants were associated with both types of cancer.
“We know from previous studies that variants across our DNA contribute towards breast cancer risk, but only rarely have scientists have been able to identify exactly which genes are involved,” Dr. Fachal said. “We need this information as it gives us a better clue to what is driving the disease and hence how we might treat or even prevent it.”
Disclosure: The study authors reported no conflicts of interest.
