CYP1B1 L432V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CYP1B1 L432V

(CYP1B1 Leu432Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Sissung TM, Danesi R, Price DK, Steinberg SM, de Wit R, Zahid M, Gaikwad N, Cavalieri E, Dahut WL, Sackett DL, Figg WD, Sparreboom A. Association of the CYP1B1*3 allele with survival in patients with prostate cancer receiving docetaxel. Mol Cancer Ther. 2008 Jan;7(1):19-26. doi: 10.1158/1535-7163.MCT-07-0557. Epub 2008 Jan 9. PubMed PMID: 18187806.

 

Keskitalo JE, Zolk O, Fromm MF, Kurkinen KJ, Neuvonen PJ, Niemi M. ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin. Clin Pharmacol Ther. 2009 Aug;86(2):197-203. Epub 2009 May 27. PubMed PMID: 19474787.

 

Genomes
 

Other external references
 

    PharmGKB
  • [Prostatic Neoplasms]
    [docetaxel]
    In clinical studies of prostate cancer patients treated with docetaxel, CYP1B1*3 was associated with patient survival.
    www.ncbi.nlm.nih.gov/pubmed/18187806
  • [Breast Neoplasms]
    [paclitaxel]
    In clincal studies of breast cancer patients treated with paclitaxel, CYP1B1*3 was associated with progression-free survival, independent of paclitaxel clearance
    www.ncbi.nlm.nih.gov/pubmed/19474787
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (146 hits -- see all)
  • CYP1B1 [PharmGKB]
    rs1056836 at chr2:38151707 in CYP1B1. A study in 264 unrelated primary open-angle glaucoma ... CYP1B1*3;CYP1B1:4326 C>G; CYP1B1:L432V. Related Drugs: docetaxel ...
    www.pharmgkb.org/do/serve?objId=PA27094&objCls=Gene
  • Rs1056836 - SNPedia
    rs1056836, also known as 4326C/G, Val432Leu or L432V, is a SNP in the cytochrome P450 1B1 (CYP1B1) gene. This gene is a member of the CYP1 gene ...
    www.snpedia.com/index.php?title=Rs1056836
  • CYP1B1
    L432V. Stoilov et al, 1998. Bailey et al, 1998. CYP1B1*4. CYP1B1.4. 4390A>G. N453S. Stoilov et ... A119S; L432V; A443G. Aklillu et al, 2002. CYP1B1*8. CYP1B1*9. CYP1B1*10 ...
    www.cypalleles.ki.se/cyp1b1.htm
  • CiNii Article - Relationship between Single Nucleotide ...
    Wedemonstrated that a SNP in the CYP1B1 gene is associated with the magnitude of ... results suggest that L432V polymorphism in the CYP1B1 gene could be used to ...
    ci.nii.ac.jp/naid/110006447095
  • Using Microarray Analysis to Evaluate Genetic Polymorphisms ...
    The ability to detect CYP1A1 I462V, CYP1B1 L432V, GSTP1. I105V and AhR R554K gene ... Table 2 Determination of CYP1A1 I462V, CYP1B1 L432V, GSTP1 ...
    qir.kyushu-u.ac.jp/dspace/bitstream/.../1/fam98-5_p208.pdf
  • Association of Cytochrome P450 1B1 (CYP1B1) Polymorphism with ...
    Because CYP1B1 is known to be involved in mammary estrogen metabolism, we investigated ... the Cyp1B1 L432V Gene Polymorphism and Exposure to Tobacco Smoke on ...
    cancerres.aacrjournals.org/cgi/content/abstract/58/22/5038
  • TCDD-mediated alterations in the AhR-dependent pathway in ...
    Influence of the Cyp1B1 L432V Gene Polymorphism and Exposure to Tobacco Smoke on Cyp1B1 mRNA Expression in ... according to induction of CYP1B1 mRNA by environmental dioxins. ...
    carcin.oxfordjournals.org/cgi/content/abstract/24/4/673
  • NIOSHTIC-2 Search Results - Full View
    Listing of Chemical-related topic pages on the NIOSH Web site. ... Single nucleotide polymorphisms (SNPs) in CYP1B1 (L432V) and CYP1A2 (IVS1-154, A>C) affect metabolism of ...
    www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=upper+midwest+...
  • British Journal of Cancer - Polymorphisms in the CYP1B1 gene ...
    Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer ... the polymorphisms of CYP1B1, especially L432V, and susceptibility to ...
    www.nature.com/bjc/journal/v89/n8/full/6601288a.html
  • Polymorphisms related to estrogen and xenobiotic metabolism ...
    METHODS: The CYP1B1 (L432V), COMT (V158M), MnSOD (Ala-9Val) genotypes, to examine estrogen metabolism and the ... RESULTS: Women who carried CYP1B1 *3 and COMT-L alleles had an ...
    www.ncbi.nlm.nih.gov/pubmed/15777990

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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