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J Health Info Stat > Volume 39(1); 2014 > Article
J Health Info Stat 2014;39(1):1-15.
암 발생예측 모형과 유전위험점수에 관한 고찰
정금지 , 김소리울 , 윤미욱 , 전티나 , 지선하
Review on Genetic Risk Score and Cancer Prediction Models
Keum Ji Jung , Soriul Kim , Miwuk Yun , Christina Jeon , Sun Ha Jee
reviewed articles that examined the predictability of GRS on cancer prediction models. Our data sources included a PubMed search of the literature published until February 2014. Secondly, we have calculated the GRS using the data example data with five SNPs related colorectal cancer (CRC) obtained from the Korean cancer prevention study II. Two approaches were used to calculate the GRS: a simple risk alleles count method (counted GRS) and a weighted method based on the genotype frequencies for each SNP and the effect sizes (allelic odds ratio or beta coefficient) from our study (weighted GRS).
Of 31 studies initially identified, 16 (135,110 participants) met the inclusion criteria. Among 16 articles, 7 studies were related to prostate cancer, 6 studies to breast cancer, and 3 studies to colon cancer and lung cancer. Fifteen studies except for one study concluded that in general, a genetic score may be helpful or useful in identifying the high risk group and particularly to determining the high risk individual among patients within a ‘‘gray zone’’ of cancer risk. The weighted GRS with age and sex (AUC=0.9333) had higher predictability on the CRC risk than the model with GRS alone (AUC=0.816).
Although adding GRS improves prediction model performance, the clinical utility of these genetic risk models is limited. Nonetheless, the modelling suggests public health potential since it is possible to stratify the population into cancer risk categories, thereby informing targeted prevention and management.
Key words: Single-nucleotide polymorphisms, Genetic risk score, Prediction model
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