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Gene of the month: STK11
  1. Roman E Zyla1,
  2. Elan Hahn1,2,
  3. Anjelica Hodgson1,2
  1. 1 Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
  2. 2 Anatomic Pathology, University Health Network, Toronto, Ontario, Canada
  1. Correspondence to Dr Anjelica Hodgson, Anatomic Pathology, Toronto General Hospital - University Health Network, Toronto, ON, M5G 2C4, Canada; anjelica.hodgson{at}uhn.ca

Abstract

STK11 encodes for the protein liver kinase B1, a serine/threonine kinase which is involved in a number of physiological processes including regulation of cellular metabolism, cell polarity and the DNA damage response. It acts as a tumour suppressor via multiple mechanisms, most classically through AMP-activated protein kinase-mediated inhibition of the mammalian target of rapamycin signalling pathway. Germline loss-of-function mutations in STK11 give rise to Peutz-Jeghers syndrome, which is associated with hamartomatous polyps of the gastrointestinal tract, mucocutaneous pigmentation and a substantially increased lifetime risk of many cancers. In the sporadic setting, STK11 mutations are commonly seen in a subset of adenocarcinomas of the lung in addition to a number of other tumours occurring at various sites. Mutations in STK11 have been associated with worse prognoses across a range of malignancies and may be a predictor of poor response to immunotherapy in a subset of lung cancers, though further studies are needed before the presence of STK11 mutations can be implemented as a routine clinical biomarker.

  • genetics
  • neoplasms
  • pathology
  • molecular
  • molecular biology

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Footnotes

  • Handling editor Runjan Chetty.

  • Contributors REZ, EH and AH worked cooperatively and contributed equally to this manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

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