A colorectal cancer prediction model using traditional and genetic risk scores in Koreans

BMC Genetics

Terri H Beaty⁵  Sun Ha Jee¹  Tae Il Kim³  Soriul Kim²  Christina Jeon¹  Daeyoun Won⁴  Keum Ji Jung² 

[1] Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, 50 Yonse-ro, Seodaemun-gu, Seoul, South Korea;Department of Public Health, Graduate School, Yonsei University, Seoul, South Korea;Division of Gastroenterology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, South Korea;The Catholic University of Korea, Seoul Saint Mary’s Hospital, Seoul, South Korea;Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA

关键词: Colorectal cancer;    Gene-traditional risk score;    Single nucleotide polymorphisms;   

Others  :  1199158
DOI  :  10.1186/s12863-015-0207-y

 received in 2015-01-07, accepted in 2015-04-22,  发布年份 2015

【 摘 要 】

Background

Genome-wide association studies have identified numerous single nucleotide polymorphisms (SNPs) as associated with colorectal cancer (CRC) risk in populations of European descent. However, their utility for predicting risk to CRC in Asians remains unknown. A case-cohort study (random sub-cohort N = 1,685) from the Korean Cancer Prevention Study-II (KCPS-II) (N = 145,842) was used. Twenty-three SNPs identified in previous 47 studies were genotyped on the KCPS-II sub-cohort members. A genetic risk score (GRS) was calculated by summing the number of risk alleles over all SNPs. Prediction models with or without GRS were evaluated in terms of the area under the receiver operating characteristic curve (AUROC) and the continuous net reclassification index (NRI).

Results

Seven of 23 SNPs showed significant association with CRC and rectal cancer in Koreans, but not with colon cancer alone. AUROCs (95% CI) for traditional risk score (TRS) alone and TRS plus GRS were 0.73 (0.69–0.78) and 0.74 (0.70–0.78) for CRC, and 0.71 (0.65–0.77) and 0.74 (0.68–0.79) for rectal cancer, respectively. The NRI (95% CI) for a prediction model with GRS compared to the model with TRS alone was 0.17 (-0.05-0.37) for CRC and 0.41 (0.10–0.68) for rectal cancer alone.

Conclusion

Our results indicate genetic variants may be useful for predicting risk to CRC in the Koreans, especially risk for rectal cancer alone. Moreover, this study suggests effective prediction models for colon and rectal cancer should be developed separately.

【 授权许可】

   
2015 Jung et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

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