An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review

@article{Daniell2017AnEO,
  title={An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review},
  author={Julian Daniell and John-Paul Plazzer and Anuradha Perera and Finlay A. Macrae},
  journal={Familial Cancer},
  year={2017},
  pages={1-7}
}
Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome. Clinical features include hamartomatous polyps, mucocutaneous pigmentation and an increased predisposition towards developing malignancy. Variants in STK11, a tumour suppressor gene, located on Chromosome 19, predispose to PJS. Peutz-Jeghers Syndrome is associated with increased rates of malignancy, particularly gastrointestinal. However, PJS is also associated with increased gynaecological, testicular and… CONTINUE READING
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