Variant Alleles of the CYP1B1 Gene Are Associated with Colorectal Cancer Susceptibility

Overview

Journal BMC Cancer

Publisher Biomed Central

Specialty Oncology

Date 2010 Aug 13

PMID 20701755

Citations 13

Authors

Joanna Trubicka

Ewa Grabowska-Klujszo

Janina Suchy

Bartlomiej Masojc

Pablo Serrano-Fernandez

Grzegorz Kurzawski

Cezary Cybulski

Bohdan Gorski

Tomasz Huzarski

Tomasz Byrski

Jacek Gronwald

Elzbieta Zlowocka

Jozef Kladny

Zbigniew Banaszkiewicz

Rafal Wisniowski

Elzbieta Kowalska

Jan Lubinski

Rodney J Scott

Affiliations

Soon will be listed here.

Abstract

Background: CYP1B1 is a P450 enzyme which is involved in the activation of pro-carcinogens to carcinogens as well as sex hormone metabolism. Because differences in the activity of the enzyme have been correlated with variant alleles of single nucleotide polymorphisms (SNPs), it represents an attractive candidate gene for studies into colorectal cancer susceptibility.

Methods: We genotyped 597 cancer patients and 597controls for three CYP1B1 SNPs, which have previously been shown to be associated with altered enzymatic activity. Using the three SNPs, eight different haplotypes were constructed. The haplotype frequencies were estimated in cases and controls and then compared. The odds ratio for each tumour type, associated with each haplotype was estimated, with reference to the most common haplotype observed in the controls.

Results: The three SNPs rs10012, rs1056827 and rs1056836 alone did not provide any significant evidence of association with colorectal cancer risk. Haplotypes of rs1056827 and rs10012 or rs1056827 and rs1056836 revealed an association with colorectal cancer which was significantly stronger in the homozygous carriers. One haplotype was under represented in the colorectal cancer patient group compared to the control population suggesting a protective effect.

Conclusion: Genetic variants within the CYP1B1 that are associated with altered function appear to influence susceptibility to a colorectal cancer in Poland. Three haplotypes were associated with altered cancer risk; one conferred protection and two were associated with an increased risk of disease. These observations should be confirmed in other populations.

Citing Articles

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

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CYP1B1 converts procarcinogens into genotoxins in Saccharomyces cerevisiae.

Kannan A, Perpetua N, Dolan M, Fasullo M Mutat Res Genet Toxicol Environ Mutagen. 2022; 874-875:503440.

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Sequence Polymorphism in Xenobiotic Metabolising Genes in Iraqi Colorectal Cancer Patients.

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Role of Genetic Variation in Cytochromes P450 in Breast Cancer Prognosis and Therapy Response.

Hlavac V, Vaclavikova R, Brynychova V, Ostasov P, Kozevnikovova R, Kopeckova K Int J Mol Sci. 2021; 22(6).

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Polymorphisms in Phase I (CYP450) Genes (rs4646421), (rs1056836), (rs749292) and (rs1058930) and Their Relation to Risk of Breast Cancer: A Case-Control Study in Mazandaran Province in North of Iran.

Golmohammadzadeh G, Mohammadpour A, Ahangar N, Shokrzadeh M Open Access Maced J Med Sci. 2019; 7(15):2488-2496.

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