Two large genome-wide association studies of thousands of women have identified 75 new genetic regions that influence the risk of breast cancer.
The findings — from an international team including Harvard T.H. Chan School of Public Health — add to the roughly 100 known breast cancer risk regions in the human genome, providing information that could help identify women at high risk of breast cancer as well as guidance for further research on the biology of breast cancer development and progression.
One study identified 65 new genetic regions associated with overall breast cancer risk and was published October 23, in Nature. The other study, published the same day in Nature Genetics, identified 10 genetic regions linked with risk of estrogen receptor-negative breast cancer — an aggressive type of breast cancer that does not respond to hormonal treatments.
“These studies implicate many previously unsuspected genes and genetic mechanisms in breast carcinogenesis,” said Dr. Peter Kraft, professor of epidemiology and a co-senior author of both studies. “The findings could be used to identify women at high risk of breast cancer who might benefit from more intensive breast-cancer screening or other risk-reducing strategies.”