PREMM1,2Prediction of Mutations in MLH1 AND MLH2 (Lynch syndrome)
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Several easily learned and clinically useful models are available online, including the Tyrer-Cuzick Calculator; BRCAPRO; the PREMM1,2,6 model; and the National Cancer Institute Colon Cancer Risk Assessment Tool.
The PREMM1,2 (Prediction of Mutations in MLH1 and MSH2) model was developed using a cohort of 898 probands and 1,618 first- or second-degree relatives who submitted blood samples for sequencing of the two genes, then validated in another cohort of 1,016 probands.
The PREMM1,2 model thus is more sensitive and specific than clinical criteria in determining which patients should undergo extensive genetic testing.