Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

@article{Ylikorkala1999MutationsAI,
  title={Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.},
  author={Antti Ylikorkala and Egle Avizienyte and Ian P.M. Tomlinson and Marianne Tiainen and Sabine Roth and Anu Loukola and Akseli Hemminki and Monika Johansson and Pertti Sistonen and David Markie and Kenneth W. Neale and Rl Phillips and Peter Zauber and T Twama and Julian Sampson and Heikki J{\"a}rvinen and Tomi P. M{\"a}kel{\"a} and Lauri A. Aaltonen},
  journal={Human molecular genetics},
  year={1999},
  volume={8 1},
  pages={
          45-51
        }
}
Germline mutations in LKB1 have been reported to underlie familial Peutz-Jeghers syndrome (PJS) with intestinal hamartomatous polyps and an elevated risk of various neoplasms. To investigate the prevalence of LKB1 germline mutations in PJS more generally, we studied samples from 33 unrelated PJS patients including eight non-familial sporadic patients, 20 familial patients and five patients with unknown family history. Nineteen germline mutations were identified, 12 (60%) in familial and four… CONTINUE READING

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