[Polymorphism Lys751Gln of XPD gene and breast cancer risk in women].
Polymorphisms in DNA repair genes resulting in variation of DNA repair efficiency may therefore be associated with cancer risk.


OBJECTIVE
In the present work the distribution of genotypes and frequency of alleles of the Lys751Gln polymorphism of XPD gene in subjects with breast cancer were investigated.


METHODS
Genomic DNA isolated from 92 breast cancer patients and control (n=110) was used to genotype XPD Lys751Gln by means of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.


RESULTS
The distribution of the genotypes of the Lys751Gln polymorphism of XPD 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 Lys751Gln polymorphism of XPD gene may not be linked with appearance and development of breast cancer.
Instytut Centrum Zdrowia Matki Polki w Łodzi, Pracownia Biologii Molekularnej, Zakład Patomorfologii Klinicznej.
Hanna
H
Romanowicz-Makowska
Beata
B
Smolarz
D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002277:Carcinoma / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000097:blood / Q000302:isolation & purification*; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
D014408:Biomarkers, Tumor; D004268:DNA-Binding Proteins; D004247:DNA; D051759:Xeroderma Pigmentosum Group D Protein