rs8192709
This is a protein-altering variant in the CYP2B6 gene.
▶Research that mentions this SNP (1)
▶Pharmacogenetic assessment of clinical outcome in patients with metastatic breast cancer treated with docetaxel plus capecitabineAssociationN=69Ningning Dong et al.(2012)· Journal of Cancer Research and Clinical Oncology
A prospective pharmacogenetic study of 69 metastatic breast cancer patients treated with docetaxel plus capecitabine identified CYP1A1 rs1048943 A>G (Ile462Val) as significantly associated with progression-free survival (P=0.0003, HR=0.4 for GA/GG vs AA genotype). While 79 CYP450 SNPs were tested, only this single variant remained significant after Bonferroni correction and multivariate analysis (P=0.004).
About CYP2B6
This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
View all CYP2B6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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