Lynch Syndrome Mutation Study Suggests Changes to Clinical Management

Based on a prospective observation of more than 6,000 individuals with the gene mutations associated with Lynch syndrome, investigators have suggested that management guidelines for the condition may need to be revised based on evidence of different gene and gender-specific risks and a relatively good prognosis for the most commonly associated cancers.

Looking to the future, the investigators proposed a redefinition of the term Lynch syndrome to encompass four clinically distinct inherited cancer risk syndromes. More specifically, they argue, PMS2 mutation carriers should not be grouped together with carriers of MLH1 and MSH2 pathogenic variants, considering that both genetic counseling and clinical management would differ for the two groups. MSH6 mutations may also justify specific surveillance strategies tailored to this genotype.


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