Σφακιανάκης Αλέξανδρος
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Πέμπτη 6 Ιουλίου 2017

Mutation Frequencies in Patients With Early-Onset Colorectal Cancer

To the Editor Pearlman et al reported that in screening patients with colorectal cancer (CRC) for inherited germline mutated genes predisposing to CRC, 13 of 72 (18%) "had mutations in genes not traditionally associated with CRC risk."(p464) They note that "all patients found to have pathogenic mutations received genetic counseling and current evidence-based guidelines for intensive cancer surveillance based on their mutation status."(p469) However, these guidelines are not based on any known relevance of incidentally discovered germline mutations.

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