Article
An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.
Familial cancer - 1 Jul 2018
Daniell Julian, Plazzer John-Paul, Perera Anuradha, Macrae Finlay
Abstract excerpt
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....
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