rs10502001
This is a protein-altering variant in the MMP7 gene.
▶Research that mentions this SNP (1)
▶Genetic polymorphisms in the MMP‐7 gene and breast cancer survivalAssociationN=1,079Alicia Beeghly‐Fadiel et al.(2009)· International Journal of Cancer
This population-based survival study of 1,079 Chinese breast cancer patients found that two common MMP-7 polymorphisms significantly predict breast cancer prognosis. Patients homozygous for the rs11568818 rare allele (G) had substantially worse overall survival (HR: 6.7, 95% CI: 2.4-18.6), while rs11225297 T allele carriers showed improved survival in a dose-response manner (AT: HR 0.7; TT: HR 0.3).
About MMP7
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]
View all MMP7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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