Interpretation of Test Results

The mutation identification rate for LKB1 mutations in individuals with Peutz-Jeghers syndrome has ranged from 58% to 100%, depending on the study.16 For affected families without an identifiable mutation in LKB1, interpretation of the test results must be made with caution. Several possible explanations exist for a negative test result in an individual with this syndrome. One possibility is that a locus other than LKB1 is responsible for the syndrome in this individual, as families have been reported that exhibit linkage to regions other than 19p. Another possibility is that the testing method was not able to detect the mutation present in the family. For those families without an identifiable mutation, all first-degree relatives should participate in heightened cancer surveillance.

Site-specific testing should be offered to family members of affected individuals with a known LKB1 mutation. Individuals that test positive for a deleterious mutation are at increased risk for cancer and should alter their cancer surveillance accordingly. For those who have not inherited the mutation, their risk for malignancy is that of the general population.

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