Document Detail

GNAS is not involved in gastrointestinal tumour formation in Peutz-Jeghers syndrome.
MedLine Citation:
PMID:  23337932     Owner:  NLM     Status:  Publisher    
Peutz-Jeghers syndrome (PJS), caused by germ-line mutations in LKB1, is characterized by the development of hamartomatous polyps in the gastrointestinal (GI) tract. McCune Albright syndrome (MAS), caused by somatic activating mutations in GNAS, presents with cutaneous, skeletal, and endocrine manifestations. Recently, hamartomatous GI polyps with histological features similar to those in PJS were observed in MAS patients, suggesting a role for GNAS in the pathogenesis of PJS. This study reports the first somatic GNAS mutation analysis in GI tumours of PJS patients. No mutations were observed, suggesting that GNAS is not involved in the pathogenesis of GI tumours in PJS.
Susanne E Korsse; Maikel P Peppelenbosch; Ron Smits; Wendy van Veelen
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-22
Journal Detail:
Title:  Familial cancer     Volume:  -     ISSN:  1573-7292     ISO Abbreviation:  Fam. Cancer     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Gastroenterology and Hepatology, Erasmus Medical University Centre, Room L-463, 's Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.
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