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For Providers Referring Patients to the Lynch Syndrome Center

  • Sapna Syngal, MD, MPH with a patient
  • When to Refer a Patient

    If your patient has a family history of multiple people on the same side of the family diagnosed with colorectal cancer, uterine cancer, ovarian cancer, or other Lynch syndrome-associated cancers, especially at a young age, please refer the patient to our Lynch Syndrome Center.

    Sapna Syngal, MD, MPH, and colleagues have developed a novel tool called the PREMM5 model (PREdiction Model for gene Mutations) to identify individuals who have Lynch syndrome. The simple computerized personal and family history questionnaire uses a clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. Mutations in these genes cause Lynch syndrome.

    In addition to information about the individual being evaluated, the model requires:

    • A personal or family history of colorectal cancer, endometrial (uterine) cancer, or other Lynch syndrome-associated cancers
    • Types of cancer and ages at diagnosis of first-degree relatives from the affected side of the family (parents, siblings, children)
    • Types of cancer and ages at diagnosis of second-degree relatives from the affected side of the family (grandparents, grandchildren, aunts, uncles, nieces, nephews)

    Anyone who has a score of ≥ 2.5 percent should be evaluated for Lynch syndrome. This may include tumor testing via microsatellite instability (MSI) or mismatch repair immunohistochemistry (MMR IHC), genetic counseling, and/or germline genetic testing. The current PREMM5 model is geared towards health care providers, but future directions include development of a patient-driven version so that individuals can assess their own risk.

    How to Refer a Patient

    A patient's primary care physician or community specialist is an integral part of the patient's care team. We are committed to working with you in the long-term care of your patient with Lynch syndrome.

    Find out more about how to refer a patient to our Center. Note: When selecting the "Diagnosis," choose the "Lynch syndrome" option under the "Cancer Risk and Prevention (Adult)" option.

    Support for Providers

    • Our staff is willing to travel to your clinic or hospital to deliver educational talks or attend tumor boards to lend expertise. Please get in touch if this would be helpful for your practice.
    • We hold a monthly patient review via teleconference to review management recommendations for individual cases. If you would like to join to learn about the best management strategies on a case-by-case basis, please contact us.
    • Certain individual cases may also be reviewed as a virtual consultation through Dana-Farber's Grand Rounds service. Please contact us to learn more.

    Support for Genetic Counselors

    For genetic counselors following patients with Lynch Syndrome without a gastrointestinal oncologist or gastroenterologist to aid with medical management recommendations, please contact us to ensure your patients are receiving the most up-to-date and optimal care.

    Related Resources

    Lynch Syndrome Clinical Trials