A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study
Gastroenterology and Hepatology from Bed to Bench,
Vol. 16 No. 3 (2023),
3 June 2023
https://doi.org/10.22037/ghfbb.v16i2.2751
Abstract
Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), STK11 is known as a tumor suppressor gene, which is involved in cell polarization, regulation of apoptosis, and DNA damage response. In this case report study, we examined STK11 gene sequencing in a 42-year-old woman with mucocuta neous pigmentation and positive family history. Endoscopy and colonoscopy showed >1000 polyps throughout the stomach/colon (PJ-type hamartomas). The larger polyp in the stomach was resected and the small bowel imaging detected multiple jejunum/ileum small polyps. The data released from the sequencing results revealed five alterations in exons 1 to 5. The major mutation in stop codon was reported as converted to the amino acid tryptophan (TRP) to tyrosine (TER). The TGG codon was converted to TAG by mutation. Finally, another novel mutation in STK11 stop codon as a ‘de novo’ variant was seen. It is predicted that stop codon mutations make the affected person susceptible to developing colorectal cancer.
- Peutz-Jeghers syndrome (PJS),
- STK11gene
- Novel mutation
- Sequencing, Genetic analysis
How to Cite
References
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