Help
Subscribe


GastroHep.com - the global online resource for all aspects of gastroenterology, hepatology and endoscopy

 21 February 2018

Advanced search
GastroHep.com - the global online resource for all aspects of gastroenterology, hepatology and endoscopy Profile of Roy Pounder

Home

News  
Journals
Review Articles
Slide Atlas
Video Clips
Online Books
Advanced Digestive Endoscopy
Classical Cases
Conference Diary
PubMed
International GH Links
USA GH Links
National GH Links
National GI Societies
Other Useful Links




Emails on Gastroenterology and Hepatology
the National AIDS Treatment Advocacy Project
Visit the gastroenterology section of the EUMS

News

Characterization of Peutz-Jeghers syndrome for diagnosis

August's issue of the Digestive Diseases & Sciences presents the molecular characterization and cancer occurrence of a large cohort of Peutz-Jeghers syndrome patients.

News image

fiogf49gjkf04

Germline mutations of the tumor suppressor gene LKB1/STK11 are responsible for the Peutz-Jeghers syndrome.

This syndrome is an autosomal-dominant disorder characterized by mucocutaneous pigmentation, hamartomatous polyps, and an increased risk of associated malignancies.

Dr Hamid Mehenni and colleagues from Switzerland assessed the presence of pathogenic mutations in the LKB1/STK11 gene in 46 unrelated Peutz-Jeghers syndrome families.

The research team undertook genotype-phenotype correlation in regard of the development of cancer in 170 Peutz-Jeghers syndrome patients belonging to these families.

All LKB1/STK11 variants detected with single-strand conformational polymorphism were confirmed by direct sequencing.

59% had pathogenic mutations in the LKB1/STK11 gene
Digestive Diseases & Sciences

Those without LKB1/STK11 mutation were further submitted to Southern blot analysis for detection of deletions/rearrangements.

The researchers performed statistical analysis for genotype-phenotype correlation.

In 59% of unrelated Peutz-Jeghers syndrome cases, the team identified pathogenic mutations in the LKB1/STK11 gene, including 9 novel mutations.

The new mutations were 2 splice site deletion-insertions, 2 missenses, 1 nonsense, and 4 abnormal splice sites.

Genotype-phenotype analysis did not yield any differences between patients carrying mutations in LKB1/STK11 vs those without mutations, even with respect to primary biliary adenocarcinoma.

Dr Mehenni's team concludes, "This study presents the molecular characterization and cancer occurrence of a large cohort of Peutz-Jeghers syndrome patients."

"It increases the mutational spectrum of LKB1/STK11 allelic variants worldwide, and provides a new insight useful for clinical diagnosis and genetic counseling of Peutz-Jeghers syndrome families."

Dig Dis Sci 2007: 52(8): 1924-33
16 July 2007

Go to top of page Email this page Email this page to a colleague

 21 February 2018 
Adalimumab and infliximab in biologic-naïve Crohn's
 21 February 2018 
Cystic fibrosis and colorectal cancer
 21 February 2018 
Management of hemorrhoids in the USA
 20 February 2018 
Treatment algorithm for polyp cancers
 20 February 2018 
Predictors of postoperative infection in Crohn's
 20 February 2018 
Complications and surveillance colonoscopies
 19 February 2018 
Screening colonoscopy in the right and left colon
 19 February 2018 
NAFLD prevalence in the USA
 19 February 2018 
Fructans in children with IBS

 16 February 2018 
Undetected celiac in the elderly
 16 February 2018 
Inflammatory bowel diseases are global diseases
 16 February 2018 
Fructans induce non-celiac gluten sensitivity
 15 February 2018 
NSAIDS and GI damage
 15 February 2018 
Oral direct-acting antiviral treatment for Hep C virus genotype 1
 15 February 2018 
Primary vs secondary surgery for the presence of lymph node metastasis
 14 February 2018 
Predicting adenoma detection rate
 14 February 2018 
Normal bowel frequency characterization in the USA 
 13 February 2018 
Personalising treatment options for IBS
 13 February 2018 
Prebiotics improve endothelial dysfunction
 13 February 2018 
Diagnostic criteria for a Rome IV functional gastrointestinal disorders
 12 February 2018 
Visceral hypersensitivity and functional GI disorders
 12 February 2018 
Depression and aggressive IBD
 12 February 2018 
Variability in interpretation of endoscopic findings impacts patient management
 09 February 2018 
Treatment of choice for anastomotic stricture in IBD
 09 February 2018 
PRO measurement information system 
 09 February 2018 
Overall disease severity indices for IBD
 08 February 2018 
Prediction of endoscopically active disease

 08 February 2018 
Steroid-refractory acute severe ulcerative colitis
 08 February 2018 
Decision aid used by IBD patients
 07 February 2018 
Ursodeoxycholic acid combined with bezafibrate for itching
 07 February 2018 
Change in microbiome in gastritis vs gastric carcinoma
 07 February 2018 
Colorectal cancer and primary sclerosing cholangitis-IBD
 06 February 2018 
Risk of death after liver transplantation
 06 February 2018 
Crohn’s disease vs refractory pouchitis
 06 February 2018 
Support for functional dyspepsia symptom diary
 05 February 2018 
Helicobacter spp influence on GI tract 
 05 February 2018 
No link found between severe reflux and all-cause mortality 
 05 February 2018 
Psychological distress in PPI non-responders
 02 February 2018 
Assessing psychosexual impact of IBD
 02 February 2018 
Decrease in overall mortality with cholera vaccination
 02 February 2018 
Diagnostic performance of fecal immunochemical tests
 01 February 2018 
Screening frequency with family histories of colorectal cancer
 01 February 2018 
IBD and sport participation
 01 February 2018 
Life with a stoma 
 31 January 2018 
Aprepitant and gastroparesis 
 31 January 2018 
Anesthesia risk in colonoscopy
 31 January 2018 
GED-0301 for Crohn's Disease
 30 January 2018 
Intestinal dysbiosis and allergic diseases in infants
 30 January 2018 
Fructans and IBS symptoms in children
 29 January 2018 
Dosing calculator for therapy optimization in IBD
 29 January 2018 
Glecaprevir–pibrentasvir for in HCV
 29 January 2018 
Food allergen injections in eosinophilic esophagitis
 29 January 2018 
Reliability of the IBD index
 26 January 2018 
Tofacitinib vs biological therapies for ulcerative colitis
 26 January 2018 
Optimizing selection of biologics in IBD
 26 January 2018 
Nutritional risk and laparoscopic-assisted gastrectomy outcomes
 25 January 2018 
Patient-reported outcome measure for functional dyspepsia
 25 January 2018 
Predicting intra-abdominal infections after colorectal surgery
 25 January 2018 
Predictors of gastric cancer risk
 24 January 2018 
Risk factors underlying previously undiagnosed cirrhosis

Blackwell Publishing


GastroHep.com is a Blackwell Publishing registered trademark
© 2018 Wiley-Blackwell and GastroHep.com and contributors
Privacy Statement
Disclaimer
About Us