Back to Search
Start Over
A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study.
- Source :
- Gastroenterology & Hepatology from Bed to Bench; Summer2023, Vol. 16 Issue 3, p341-346, 6p
- Publication Year :
- 2023
-
Abstract
- Based on the analysis of patients with Peutz-Jeghers syndrome (PJS), Serine threonine kinase11 (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. [ABSTRACT FROM AUTHOR]
- Subjects :
- BIOMARKERS
STOMACH
GENETIC mutation
SEQUENCE analysis
COLONOSCOPY
COLON (Anatomy)
STAINS & staining (Microscopy)
INTESTINAL polyps
ELECTROPHORESIS
BLOOD collection
COLORECTAL cancer
TRYPTOPHAN
TUMOR suppressor genes
HAMARTOMA
AGAR
PEUTZ-Jeghers syndrome
ABDOMINAL pain
COMPUTED tomography
ENDOSCOPIC gastrointestinal surgery
POLYMERASE chain reaction
TYROSINE
FAMILY history (Medicine)
DISEASE risk factors
Subjects
Details
- Language :
- English
- ISSN :
- 20082258
- Volume :
- 16
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Gastroenterology & Hepatology from Bed to Bench
- Publication Type :
- Academic Journal
- Accession number :
- 172039461
- Full Text :
- https://doi.org/10.22037/ghfbb.v16i2.2751