AQP5 variant associated with prognosis in patients with early breast cancer.
e11505 Background: Our previous study showed the association of AQP5 expression with unfavorable prognosis in patients with early breast cancer (EBC). In addition, we analyzed the prognostic impact of polymorphisms of AQP5 gene in the chromosomal region 12q13 on breast cancer. Methods: The genomic DNA was extracted from paraffin-embedded tumor-free tissue from 609 early breast cancer (EBC) patients underwent curative surgery and then genotyped for 3 polymorphisms (rs3736309, rs1964676, and rs74091167) using the Sequenom Mass array system. Results: The median age of patients was 49 years (range 23-79). 106 (18.2%) patients underwent breast conserving surgery and adjuvant chemotherapy was given to 562 (92.3%) patients. Among enrolled subjects, 447 (73.3%) were hormone-responsive, 94 (15.3%) for HER2 overexpressed, and 98 (16.1%) for triple negative EBC. Among the 3 polymorphisms, AQP5 rs74091167 was significantly associated with disease-free survival (DFS) and distant disease-free survival (DDFS) in a dominant model (P < 0.001 and P = 0.021, respectively). Moreover, multivariate survival analysis revealed that the GG genotype of AQP5 rs74091167 was significantly associated with better DFS (HR = 0.377; 95% CI 0.179-0.793; P = 0.010) when compared with the combine GC/CC genotype adjusted to clinicopathological variables. However, no difference in AQP5 rs74091167 polymorphism was observed based on patient and tumor characteristics. Conclusions: AQP5 rs74091167 variant can be considered as a prognostic marker in patients with EBC after curative operation. In the future, functional relevance of this variant needs to be clarified.