MEME KANSERLİ HASTALARDA CYP19 GENİ KODON 39 Trp/Arg ...

ABSTRACT
INVESTIGATION OF POLIMORPHISM OF CODON 39 Trp/Arg, GENE CYP19
AND GENOTYPE DISTRIBUTION AMONG PATIENTS WITH
BREAST CANCER
Breast cancer is a genetic disease where breast cells proliferate abnormally.
Most of the risk factors for breast cancer relate to the increased level or
prolonged exposure to estrogen. The polymorphic genes, involved in estrogen
biosynthesis and conversion of the estrogen metabolites and products, play an
important role in the development of sporadic breast cancer.
CYP19 gene, localized at chromosome 15q21.2, encodes aromatase, an
important enzyme for estrogen biosynthesis, catalyses the conversion of androgens
to estrogens. Any genetic variation at this gene, may alter the aromatase activity
and estrogen level. Many gene polymorphisms of CYP19 gene are under
inspection, as it is thought to be related to breast cancer potentially.
This study was planned to investigate the relationship between breast
cancer risk and CYP19 gene codon 39 Trp/Arg polimorphism. Here experimental
groups were choosen among the patients who had been surgically operated and
histologically confirmed and the controls were not prognosed as breast cancer.
After DNA isolation, genotyping was conducted by PCR using two pairs of
primers; one pair for T allele (Trp), and one pair for C allele (Arg). It was
reported that in Japanese women homozygous and heterozygous carriers of the
variant Arg allele showed a significantly increased risk for breast cancer among
premenopausal stages. In our study only TT genotype was found in both control
and experimental groups.
Key words: Aromatase, CYP19 gene, Breast cancer, Estrogen biosynthesis.
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