Pharmacogenomic Effect/ADR for Tamoxifen (DBSNPE005862)

Identifier
DBSNPE005862
Drug
DB00675 (Tamoxifen)
Interacting Gene/Enzyme
Cytochrome P450 2D6
Gene Name
CYP2D6
UniProt ID
P10635
Defining Change(s)
1707delTrs5030655
Allele Name
CYP2D6*6
Genotype(s)
Not Available
Type(s)
Effect Inferred
Groups
Non-functional CYP2D6
Description
Poor response to drug treatment, shorter time to relapse
References
  1. Saxena R, Shaw GL, Relling MV, Frame JN, Moir DT, Evans WE, Caporaso N, Weiffenbach B: Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype. Hum Mol Genet. 1994 Jun;3(6):923-6. [PubMed:7951238]
  2. Evert B, Griese EU, Eichelbaum M: Cloning and sequencing of a new non-functional CYP2D6 allele: deletion of T1795 in exon 3 generates a premature stop codon. Pharmacogenetics. 1994 Oct;4(5):271-4. [PubMed:7894499]
  3. Daly AK, Leathart JB, London SJ, Idle JR: An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution. Hum Genet. 1995 Mar;95(3):337-41. [PubMed:7868129]
  4. Marez D, Legrand M, Sabbagh N, Lo Guidice JM, Spire C, Lafitte JJ, Meyer UA, Broly F: Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics. 1997 Jun;7(3):193-202. [PubMed:9241659]
  5. The Human Cytochrome P450 (CYP) Allele Nomenclature Database [Link]