Colorectal cancer polygenic risk score test


AnteCRC is a genetic test that assesses risk of developing colorectal cancer using polygenic risk score (PRS) technology. It is a clinical tool that estimates the colorectal cancer risk level of an individual for precise and efficient prevention and screening. Its aim is to reduce colorectal cancer morbidity and mortality. AnteCRC test is recommended for men and women between the ages of 40 and 75.

Science behind the AnteCRC test

About AnteCRC

  • About the AnteCRC Test

    AnteCRC is a clinical test registered as a CE-marked medical device (in vitro diagnostics, IVD) in the EUDAMED database (UDI-DI: 04745010362026), in the Estonian Medical Devices Database (EMDDB code: 14951), and the UK MHRA Registry (GMDN code: 62532).

    The test results provide information about the individual’s polygenic risk level for colorectal cancer. This includes a colorectal cancer-specific PRS value, the absolute risk for colorectal cancer in the next 10 years, and the relative risk in comparison to other women and men in the same age group and population on average.

    Depending on the application, the test report may include individual clinical recommendations to reduce the risk of developing colorectal cancer such as:

    • What age the individual should start colorectal cancer screening and how
    • Whether the individual should take additional measures to prevent colorectal cancer
    • What possible changes and symptoms the individual should look out for concering colorectal cancer.
  • Aim of the AnteCRC Test

    The purpose of the AnteCRC test is to reduce the risk of premature mortality from colorectal cancer. It provides more precise recommendations for colorectal cancer screening and additional preventive measures. Colorectal cancer risk stratification increases the precision and efficiency of methods in colorectal cancer prevention. The AnteCRC test incorporates PRS technology into screening programs, enabling targeted recommendations for more efficient primary and secondary prevention.

  • AnteCRC Test Methodology

    For the PRS calculation, AnteCRC uses the patient’s DNA data from genotyping and summarises the impact of 91 colorectal cancer-related single nucleotide polymorphisms (SNPs).

    To develop the AnteCRC test, different PRSs and their risk differentiation estimations were validated using anonymous data from the UK Biobank. Based on large-scale genetic data, various risk prediction models published in the international scientific literature were compared. The prediction accuracy of the best- performing model was evaluated on independent data and developed further for the test (1). The PRS underlying AnteCRC is adapted and independently validated for practical use based on the report by Huyghe at al. (2).

    The test is based on genome-wide association studies of patients and study participants of primarily European ancestry. However, the test is adapted to other ethnicities based on the analyses of risk performance in the ethnically diverse UK Biobank data.

    AnteCRC has been developed by the health-tech company Antegenes and is performed by Antegenes’ medical lab.

  • AnteCRC Test Limitations
    • AnteCRC cannot be used to diagnose colorectal cancer.
    • High risk does not necessarily mean that the patient will develop colorectal cancer during his/her lifetime.
    • Moderate or lower risk does not necessarily mean that the patient will never develop colorectal cancer during his/her lifetime.
    • AnteCRC test results are individual and patient specific. The AnteCRC test does not assess the risk for the patient’s family members or relatives. The inheritance pattern of PRS is complex and each person has to be tested separately.
    • AnteCRC does not analyse rare monogenic pathogenic variants in genes that significantly increase the risk of colorectal cancer, such as APC, KRAS, TP53, MLH1, MSH2, MSH6, PMS2, STK11, MUTYH, and others. If patient biological relative has a monogenic pathogenic variant in these genes, or if patient has several colorectal or ovarian cancer cases in his/her family, Antegenes recommends additional counselling and testing for such monogenic variants.
    • AnteCRC test is based on the most recent scientific data, which may be supplemented and/or changed in the future if additional information becomes available. The field of genetics is constantly evolving, which may lead to changes in risk assessments over time, changes in test selection, and clinical recommendations.
    • Different polygenic risk scores predicting risks of the same trait may give different estimates of the individual’s risks due to differences in the genetic variants included in these models and their weights.
    • The results of this test should be applied in combination with other relevant clinical data. In addition to genetic predisposition, other risk factors influence the risk of developing colorectal cancer.
  • 1. Tasa T, Puustusmaa M, Tõnisson N, Kolk B, Padrik P. Precision Colorectal Cancer Screening with Polygenic Risk Score. medRxiv. 2020:2020.08.19.20177931.
  • 2. Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, et al. Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet. 2019;51(1):76-87.

All polygenic risk score tests

  • Breast cancer polygenic risk score test AnteBC

    For women between the ages of 30-75

  • Prostate cancer polygenic risk score test AntePC

    For men between the ages of 40-70

  • Colorectal cancer polygenic risk score test AnteCRC

    For men and women between the ages of 40-75

  • Skin Melanoma polygenic risk score test AnteMEL

    For men and women between the ages of 18-70.

Get in touch

Reach out to our dedicated team of medical specialists and discover tailored solutions that prioritize your patients health and well-being

"*" indicates required fields