Neoplasma Vol.53, p.49-55, 2006
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| Title: HER-2 [Ile655Val] polymorphism in association with breast cancer risk: a population-based case-control study in Slovakia
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| Author: P., ZUBOR
; A., VOJVODOVA
; J., DANKO
; K., KAJO
; N., SZUNYOGH
; Z., LASABOVA
; K., BIRINGER
; J., VISNOVSKY
; K., DOKUS
; P., GALAJDA
; L., PLANK
; |
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Abstract: Breast cancer belongs to the most frequent types of cancer
affecting women and it occurs at any age. Around 1600–1800
women are getting ill annually in the Slovak republic. One of the
most important factors in connection with cancer genesis
refers to changes in specific genes.
HER-2 proto-oncogene belongs to low penetrating genes, which
increase susceptibility to breast cancer genesis. Clinical
studies demonstrated an association between polymorphism at codon
655 of this gene and increased risk for breast cancer
development.
The aim of this case-control based prospective study was to
determine the distribution of HER-2 genotype and its association
with risk factors of breast cancer in the population of women in
Slovak republic. HER-2 genotypes were determined
with PCR-RFLP method. The DNA was isolated from white blood cell
nuclei.
The frequency of Val allele in the cancer group was 29.79% and was
higher than in the control group 15.84% (p<0.05).
The presence of the heterozygote (Ile/Val) genotype was identified
in 46.81% of patients in the case group and in 28.33% in
healthy individuals, and the homozygote (Val/Val) genotype in
6.38% and 1.67, respectively (p<0.01). The risk of breast
cancer development for carriers of one valine (Val) allele in
genotype was two-times lower (OR=2.47) than for carriers of
two Val alleles (OR=5.73) (p<0.05). Risk of cancer genesis for Val
allele carriers was higher in multiparas (OR=2.90),
among women with positive family history of breast cancer
(OR=5.0), BMI>24 (kg/m2), and late menopause (OR=1.5).
Contraceptives in anamnesis contrariwise showed tend to decrease
the risk in Val allele carriers (OR=0.3).
In conclusion, this study revealed relatively high frequency of
the Val allele among the women population of the Slovak
republic. Ile655Val polymorphism of HER-2 gene was associated with
a statistically significantly increased risk of breast
cancer all above in homozygotes for Val allele.
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| Keywords: breast cancer, HER-2, polymorphism, allele, risk, ethnic
distribution
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| Year: 2006, Volume: 53, Issue: |
Page From: 49, Page To: 55 |
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