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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:
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.
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.
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.
Our novel tool (PREdiction Model for gene Mutations) can be used to help identify patients with Lynch syndrome.