Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego · 2007
[Polymorphisms in XRCC1 and ERCC4/XPF DNA repair genes and associations with breast cancer risk in women].
Оценочное исследованиеСтатьяНазвание и аннотация: Перевод в очереди
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Romanowicz-Makowska Hanna, Smolarz Beata, Kulig Andrzej
Аннотация
UNLABELLED: Common polymorphism in DNA repair genes may alter protein function and an individual's capacity to repair damaged DNA; deficits in repair capacity may lead to genetic instability and carcinogenesis.
AIM OF THE STUDY: In the present work the distribution of genotypes and frequency of alleles of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism in ERCC4/XPF in subjects with breast cancer were investigated.
MATERIAL AND METHODS: Blood samples were obtained from 100 women with breast cancer and control (n = 106). The polymorphisms were determined by PCR-RFLP.
RESULTS: The distribution of the genotypes of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism of ERCC4/XPF 9 in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no significant differences (p > 0.05) in genotype distributions and allele frequencies between subgroups assigned to histological stage.
CONCLUSIONS: The results suggest that the Arg194Trp andArg399Gln polymorphism of XRCC1 gene as well as Arg415Gln polymorphism in ERCC4/XPF may not be linked with appearance and development of breast cancer.
AIM OF THE STUDY: In the present work the distribution of genotypes and frequency of alleles of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism in ERCC4/XPF in subjects with breast cancer were investigated.
MATERIAL AND METHODS: Blood samples were obtained from 100 women with breast cancer and control (n = 106). The polymorphisms were determined by PCR-RFLP.
RESULTS: The distribution of the genotypes of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism of ERCC4/XPF 9 in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no significant differences (p > 0.05) in genotype distributions and allele frequencies between subgroups assigned to histological stage.
CONCLUSIONS: The results suggest that the Arg194Trp andArg399Gln polymorphism of XRCC1 gene as well as Arg415Gln polymorphism in ERCC4/XPF may not be linked with appearance and development of breast cancer.