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Prediction Models for Mismatch Repair Gene Mutations

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Prediction Models for Mismatch Repair Gene Mutations

Criteria and Guidelines


Several criteria and guidelines have been developed for categorising families or individuals into those most likely to be carrying a MMR gene mutation so they can be triaged for germline testing. Given Lynch syndrome-associated colorectal cancers typically exhibit high level of DNA microsatellite instability (MSI) and/or loss of MMR protein expression that can be detected by immunohistochemistry (IHC), these techniques have been widely used as a screen for likely mutation carriers. Here, we categorise these criteria as 'clinical criteria' if they are only based on personal and family history of cancer, including ages and sites of diagnoses, and as 'clinicopathological criteria' if they are based on tumour pathology as well as the clinical features described above.

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