This case/control study investigates the association of this polymorphism and the D302H with breast cancer.
controls — wt/wt: 456, wt/var: 85, var/var: 6
cases — wt/wt: 455, wt/var: 55, var/var: 1
Using Cochran-Armitage trend test, p=0.0039. Assuming a 12% lifetime risk of developing breast cancer, we estimate the risk associated with the variant is 3-4% lower (~8-9% instead of 12%).