방사선의학 웹진

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[Abstract]

Purpose: Defects in the DNA damage repair process can cause genomic instability and play an important role in cervical carcinogenesis. The purpose of this study was to analyze the association of 29 candidate single nucleotide polymorphisms (SNPs) in genes in the DNA repair pathway, TP53, and TP53BP1 with the risk of cervical cancer.

Materials and Methods: Twenty nine SNPs in 4 genes in the DNA repair pathway (ERCC2, ERCC5, NBS1, and XRCC1), TP53, and TP53BP1 were genotyped for 478 cervical cancer patients and 922 healthy control subjects, and their effects on cervical carcinogenesis were analyzed.

Results: The most significant association was found for rs17655 in ERCC5, with an age adjusted p-value of 0.00004, for which a strong additive effect of the risk allele C was observed (odds ratio = 2.01 for CC to GG). On the other hand, another significant polymorphism rs454421 in ERCC2 showed a dominant effect (odds ratio = 1.68 for GA+AA to GG) with an age adjusted p-value of 0.00094. The association of these polymorphisms remained significant regardless of the age of onset. The significant result for rs17655 was also consistent for subgroups of patients defined by histology and HPV types. However, for rs454421, the association was observed only in patients with squamous cell carcinoma and non-HPV 18 type.

Conclusion: s The results of this study show a novel association of cervical cancer and the genes involved in the nucleotide excision pathway in the Korean population.

[Author information]

Joo J1, Yoon KA2, Hayashi T3, Kong SY4, Shin HJ5, Park B1, Kim YM6, Hwang SH7, Kim J8, Shin A8, Kim JY5.

1 Biometric Research Branch, National Cancer Center, Goyang, Korea.

2 Lung Cancer Branch, National Cancer Center, Goyang, Korea.

3 Department of Radiobiology and Molecular Epidemiology, Radiation Effects Research Foundation, Hiroshima, Japan.

4 Translational Epidemiology Research Branch and Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.

5 Radiation Medicine Branch, National Cancer Center, Goyang, Korea.

6 Department of Statistics, Radiation Effects Research Foundation, Hiroshima, Japan.

7 Hematologic Malignancy Branch and Department of Laboratory Medicine, National Cancer Center, Goyang, Korea.

8 Molecular Epidemiology Branch, National Cancer Center, Goyang, Korea.