[Polymorphisms in XRCC1 and ERCC4/XPF DNA repair genes and associations with breast cancer risk in women].
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.


OBJECTIVE
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.


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.
Instytut Centrum Zdrowia Matki Polki, Pracownia Biologii Molekularnej, Zakład Patomorfologii Klinicznej.
Hanna
H
Romanowicz-Makowska
Beata
B
Smolarz
Andrzej
A
Kulig
D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D001940:Breast; D001943:Breast Neoplasms / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000097:blood / Q000302:isolation & purification*; D004260:DNA Repair; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D000076105:X-ray Repair Cross Complementing Protein 1
D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human; C095888:xeroderma pigmentosum group F protein; D004247:DNA