Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors
نویسندگان
چکیده
Background Microsatellite instability (MSI) is a hallmark of DNA mismatch repair (MMR) deficiency and is an established screening tool for identifying Lynch syndrome in colorectal cancer populations [1]. However, MSI testing is neither perfectly sensitive nor specific to detect Lynch Syndrome, and germline MMR mutations have been reported in patients with microsatellite stable (MSS) tumors [2]. The value of germline MMR testing in patients with MSS tumors may vary based on family history, and data is needed to guide choices about when to offer testing in high risk clinic settings.
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