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Nessecity of genetic testing for colorectal cancer

Detection of high throughput gene can be a variety of types of disposable mutation detection of multiple gene, synchronous parsing targeted therapy, chemotherapy and genetic risk, comprehensive guide individualized treatment of patients with colorectal cancer, patients may benefit maximization.

  • Defining patients who will benefit from targeted therapies

    For targeted therapies in patients with advanced metastatic colorectal cancer, retrospective analysis showed that only about 20% of the patients responded to EGFR monoclonal antibody drugs such as cetuximab and panitumumab. And the response was found directly related to RAS and BRAF gene mutation status. Therefore, National Comprehensive Cancer Network (NCCN) guidelines clearly require genetic testing of RAS and BRAF in order to qualify patient for first-line treatments and to avoid uncontrolled disease progression and side effects due to ineffective treatment.

  • Hereditary colorectal cancer syndrome screening and risk management

    Twenty-five percent of colorectal cancer cases are familial and around 6% of hereditary colorectal cancers are associated with a variety of genetic syndromes, including mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC and MUTYH . Genetic screening and risk management of high-risk groups can help early diagnosis and early treatment of hereditary colorectal cancer, benefitting tens of thousands of people.

  • Efficacy and toxicity assessment of chemotherapy

    Chemotherapy remains an important treatment for colorectal cancer and sensitivity to chemotherapy varies among individual patients, which can be predicted by pharmacogenetic and pharmacogenomic testing. This allows most effective drug and dosage for individual patient, maximizing drug efficacy while minimizing side-effects to achieve the best treatment outcome.

  • Real-time monitoring for acquired resistance to targeted therapies

    Acquired resistance to targeted therapies is inevitable during advanced colorectal cancer treatment. It stems from dynamic changes of tumor inner heterogeneity, which is difficult to monitor in real-time by tissue biopsy procedures. CtDNA liquid biopsy technology provides non-invasive access to genetic information of tumor that can be used to evaluate drug-resistance and tumor burden, reducing diagnostic errors due to spatial and temporal heterogeneity, and facilitating timely adjustments of clinical treatment plan.

  • Clinical trial enrollment

    Currently, bevacizumab and cetuximab are the only two targeted therapies approved by CFDA for colorectal cancer treatment. Four other treatment options such as panitumumab have been approved by FDA, and more are in clinical trials. Using genetic testing results, patients may be eligible for certain clinical trials based on their genetic status, maximizing the benefit of clinical trials.

  • Defining patients who will benefit from targeted therapies

    For targeted therapies in patients with advanced metastatic colorectal cancer, retrospective analysis showed that only about 20% of the patients responded to EGFR monoclonal antibody drugs such as cetuximab and panitumumab. And the response was found directly related to RAS and BRAF gene mutation status. Therefore, National Comprehensive Cancer Network (NCCN) guidelines clearly require genetic testing of RAS and BRAF in order to qualify patient for first-line treatments and to avoid uncontrolled disease progression and side effects due to ineffective treatment.

  • Hereditary colorectal cancer syndrome screening and risk management

    Twenty-five percent of colorectal cancer cases are familial and around 6% of hereditary colorectal cancers are associated with a variety of genetic syndromes, including mutations in MLH1, MSH2, MSH6, PMS2, EPCAM, APC and MUTYH . Genetic screening and risk management of high-risk groups can help early diagnosis and early treatment of hereditary colorectal cancer, benefitting tens of thousands of people.

  • Efficacy and toxicity assessment of chemotherapy

    Chemotherapy remains an important treatment for colorectal cancer and sensitivity to chemotherapy varies among individual patients, which can be predicted by pharmacogenetic and pharmacogenomic testing. This allows most effective drug and dosage for individual patient, maximizing drug efficacy while minimizing side-effects to achieve the best treatment outcome.

  • Real-time monitoring for acquired resistance to targeted therapies

    Acquired resistance to targeted therapies is inevitable during advanced colorectal cancer treatment. It stems from dynamic changes of tumor inner heterogeneity, which is difficult to monitor in real-time by tissue biopsy procedures. CtDNA liquid biopsy technology provides non-invasive access to genetic information of tumor that can be used to evaluate drug-resistance and tumor burden, reducing diagnostic errors due to spatial and temporal heterogeneity, and facilitating timely adjustments of clinical treatment plan.

  • Clinical trial enrollment

    Currently, bevacizumab and cetuximab are the only two targeted therapies approved by CFDA for colorectal cancer treatment. Four other treatment options such as panitumumab have been approved by FDA, and more are in clinical trials. Using genetic testing results, patients may be eligible for certain clinical trials based on their genetic status, maximizing the benefit of clinical trials.

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Guidelines for genetic testing for colorectal cancer treatment


ESMO consensus guidelines for the management of patients with metastatic colorectal cancer



• All patients with metastatic colorectal cancer should undergo mutation tests for RAS and BRAF. Cetuximab and panitumumab are not recommended for the treatment of patients with KRAS or NRAS mutations.

• Patients with BRAF V600E mutation may not be able to benefit from cetuximab or panitumumab, whether it’s mono-targeted therapy or combination with chemotherapy.

• All patients with stage II colorectal cancer should undergo MSI/MMR testing. MSI-H patients have a better prognosis and cannot benefit from 5-FU drugs as an adjuvant chemotherapy choice.

• All patients with stage IV metastatic colorectal cancer should be tested for MSI/MMR. Patients with a defective mismatch repair system are more likely to benefit from PD-1 check point inhibitors.

• All patients under 70 years old and patients over 70 who meet the Bethesda guidelines should be tested for MSI/MMR, as part of Lynch syndrome screening.


NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal



• Patients diagnosed with mCRC should receive RAS gene testing [I,A].

• RAS gene testing is mandatory and should be negative prior to receiving EGFR monoclonal antibody treatment [I,A].

• Assessment of BRAF should be conducted at the same time as RAS gene testing for prognosis prediction and potential clinical trials screening [I,B].

• MSI testing has a strong predictive value for application of immunotherapy with check point inhibitors in mCRC patients [II,B].

• MSI testing for mCRC patients helps physicians for genetic counseling and screening for Lynch syndrome [II,B].


Authoritative guideline’s recommendations of genetic testing for colorectal cancer treatment



All colorectal cancer patients under 70 years old and patients over 70 years old who meet Bethesda guidelines should receive an IHC on MMR protein and/or MSI analysis.

• If MLH1 or PMS2 protein is missing or microsatellite instability is high (MSI-H), a germline mutation should be tested after excluding BRAF V600E mutation and MLH1 promoter methylation.

• If any of proteins is deficient (MSH2, MSH6 or EPCAM), a germline mutation test should be conducted.

• A germline mutation in any of MLH1, MSH2, MSH6, PMS2 and EPCAM can be diagnosed for Lynch syndrome.

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