Association Between Cancer Screening Results Using Single Nucleotide Polymorphism and Cancer Incidence Rate in Korean Women

Abstract

In this study, we investigated the usefulness of Single Nucleotide Polymorphism (SNP) testing in assessing cancer susceptibility in women by evaluating correlations between SNP testing results and cancer incidence rates. SNP testing was conducted on blood samples of women who underwent health examinations commissioned by medical institutions in the Republic of Korea in 2017 using real-time polymerase chain reaction with OpenArray testing. The SNP panel included susceptibility testing for lung, stomach, colorectal, breast, and thyroid cancers. By comparing the proportions of the normal, cautionary, and warning ranges for these five types of cancer obtained from OpenArray testing with the cancer incidence rates for women in 2017, as reported by the national cancer information center, the practical preventive potential of SNP-based testing was evaluated. Cancer susceptibility in women was the highest for breast cancer, followed by thyroid, colorectal, gastric, and lung cancers. These five types of cancer showed the same trend for cancer incidence in 2017. Based on cumulative percentages of the 5-year cancer prevalence (2013-2017) in Korean women, thyroid cancer ranked first, followed by breast, colon, gastric, and lung cancers. Although the breast and thyroid cancer ordinals differed, their proportion was 49.4% higher than that of the other three cancer types for both the 2017 and 5-year incidence. The high rate of 95.3% in the caution and warning intervals for breast and thyroid cancers in the OpenArray test results suggests a correlation with the reported cancer incidence in 2017. These results indicate that SNP testing, although not aimed directly at diagnosing specific diseases in direct-to-consumer tests or health check-ups, can help individuals identify their genetic susceptibility to cancer, thus allowing them to implement preventive measures.