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GENATLAS PHENOTYPE
last update : 07-05-2018
Symbol PJS1
Location 19p13.3
Name Peutz-Jeghers syndrome 1
Other name(s)
  • polyposis, hamartomatous intestinal
  • polyps-and-spots syndrome
    • Corresponding gene STK11
    Other symbol(s) LKB1
    Main clinical features
  • hamartomatous polyposis syndrome with increased risk for colorectal cancer and rarely small bowel cancer, and for other cancers in older surviving patients
  • characterized by mucocutaneous melanin pigmentation, lentigines, melanin spots of the lips, buccal mucosa, palmar-plantal and anogenital surfaces
  • defective spermatogenesis and often Sertoli cell tumors (PMID: 22791749))
    • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    neoplasia
    Type susceptibility factor
    Gene product
    Name serine/threonine kinase (STK11), tumor suppressor gene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function impairing STK11-mediated cell polarization, associated with malignancies
    nonsense   truncated protein associated with malignancies
    deletion     large exonic or genomic deletions
    Remark(s) most, if not all PJS, is attributable to mutations in the STK11 gene
    Genotype/Phenotype correlations mutations that lead to activation of the Wnt/beta-catenin pathway could contribute to the cancer predisposition of PJS patients; in frame deletions abnd splice site mutations seems to be only rarely associated with malignancies