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Background  Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 ( STK11 ) gene. The increased cancer risk has been connected to P53 pathway.    Methods  PJS probands with  STK11  mutation were included in the function analysis. P53 activity elevated by  STK11  mutants was investigated using dual-luciferase reporter assay in vitro after constructing expression vectors of  STK11  wild type and mutants generated by site-directed substitution. The association between the P53 activity and clinicopathological factors was analysis, especially the cancer history.    Results  Thirteen probands with  STK11  mutations were involved, and within the mutations, c.G924A was novel. P53 activity elevation caused by 6 truncating mutations were significantly lower than that of  STK11  wild type ( P  < 0.05). Family history of cancer was observed in 5 families. Within them, P53 activity was reduced and cancer occurred before 40 in 2 families, while it was not significantly changed and cancers happened after 45 in the other 3 families.    Conclusions  The affected P53 activity caused by  STK11  mutations in PJS patients is significantly associated with protein truncation, while cancer risk in PJS can be elevated through pathways rather than P53 pathway. P53 activity test is probably a useful supporting method to predict cancer risk in PJS, which could be helpful in clinical practice.    Electronic supplementary material  The online version of this article (10.1186/s12881-018-0626-5) contains supplementary material, which is available to authorized users.

The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome