RGD Reference Report - Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. - Rat Genome Database

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Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer.

Authors: Watanabe, J  Shimada, T  Gillam, EM  Ikuta, T  Suemasu, K  Higashi, Y  Gotoh, O  Kawajiri, K 
Citation: Watanabe J, etal., Pharmacogenetics. 2000 Feb;10(1):25-33.
RGD ID: 7829734
Pubmed: PMID:10739169   (View Abstract at PubMed)

Cytochrome P450 1B1 (CYP1B1) participates in the metabolic activation of a number of procarcinogens including benzo[a]pyrene and the hydroxylation of 17beta-estradiol at the C-4 position. In this study, we investigated the association between CYP1B1 genetic polymorphism and breast or lung cancer incidence. The Ala-Ser polymorphism at codon 119 in presumed substrate recognition site 1 was significantly associated with the incidence of breast or squamous cell carcinoma of the lung. On the other hand, Leu-Val polymorphism at codon 432 did not show any association to the cancers. An allele containing both Ala and Leu simultaneously, comprised 75% of alleles among 315 Japanese healthy controls, was significantly inversely associated with breast cancer incidence. When expressed in a recombinant system, this CYP1B1 cDNA showed the lowest 17beta-estradiol 4-hydroxylase activity among four different variant forms of CYP1B1. Thus, inter-individual differences in activation of procarcinogens or metabolism of oestrogen originating from genetic polymorphisms of the human CYP1B1 gene may contribute to the susceptibility of human cancers.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
breast cancer susceptibilityIAGP 7829734DNA:snp:cds:p.A119S (human)RGD 
breast cancer susceptibilityISOCYP1B1 (Homo sapiens)7829734; 7829734DNA:snp:cds:p.A119S (human)RGD 
lung squamous cell carcinoma susceptibilityIAGP 7829734Carcinoma more ...RGD 
lung squamous cell carcinoma susceptibilityISOCYP1B1 (Homo sapiens)7829734; 7829734Carcinoma more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Mus musculus)
Cyp1b1  (cytochrome P450, family 1, subfamily b, polypeptide 1)

Genes (Homo sapiens)
CYP1B1  (cytochrome P450 family 1 subfamily B member 1)


Additional Information