Rs2448490

rs2448490 is a SNP in the signal-induced proliferation-associated 1 SIPA1 gene.

In a study of 1,725 LN=/ER+ breast cancer patients rs2448490(A;A) homozygotes showed a reduced metastasis risk compared to rs2448490(G) allele carriers. This association was statistically significant for metastasis-free survival (MFS) in multivariate analysis [MFS hazard ratio 0.56, CI: 0.37–0.84, p=0.005) and overall survival (HR 0.59, CI:0.39–0.89, p=0.012)].

This study also found that rs2448490 can be combined with an independent predictor of metastasis free survival, rs9306160, to yield an even stronger prognostic. Specifically, the risk for developing distant metastasis was about 2.5-fold lower (hazard ratio 0.40, CI: 0.24-0.68, p=0.001) for LN-/ER+breast cancer patients who were rs2448490(A;A) and rs9306160(T) carriers compared to patients who were rs2448490(G) carriers and rs9306160(C;C).

Genetic variation in SIPA1 in relation to breast cancer risk and survival after breast cancer diagnosis.


 * is_associated_with_disease::Lung cancer
 * is_associated_with_disease::Breast cancer