Peutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinase

@article{Jenne1998PeutzJeghersSI,
  title={Peutz-Jeghers syndrome is caused by mutations in a novel serine threoninekinase},
  author={Dieter E. Jenne and Heike Reomann and Junichi Nezu and W Friedel and Steffan Loff and Reinhard Jeschke and Oliver M{\"u}ller and Walter Back and Michael Zimmer},
  journal={Nature Genetics},
  year={1998},
  volume={18},
  pages={38-43}
}
Peutz-Jeghers (PJ) syndrome is an autosomal-dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer. The PJ gene was recently mapped to chromosome 19p13.3 by linkage analysis, with the highest lod score at marker D195886. In a distance of 190 kb proximal to D195886, we identified and characterized a novel human gene encoding the serine threonine kinase STK11… 

Mutations analysis ofSTK11 gene in Chinese families with Peutz-Jeghers syndrome

Mutation frequency is higher in the families suffering PJS in three or more generations than that of the sporadic cases, indicating that the point mutation inSTK11 might be involved in PJS patho-genesis.

Genetic heterogeneity in Peutz‐Jeghers syndrome

Mutation analysis revealed genetic alterations in LKB1 in two probands who had a family history of PJS, suggesting the presence of significant genetic heterogeneity for PJS and the involvement of other loci in this syndrome.

Three novel mutations of STK11 gene in Chinese patients with Peutz–Jeghers syndrome

These findings broaden the mutation spectrum of the STK11 gene and would help clinicians and genetic counselors provide better clinical surveillance for PJS patients, especially for ones carrying truncating mutation.

Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

Evidence is provided that STK11 is a tumor suppressor gene that acts as an early gatekeeper regulating the development of hamartomas in PJS and suggest that hamartoma may be pathogenetic precursors of adenocarcinoma.

Novel mutations in the LKB1/STK11 gene in Dutch Peutz‐Jeghers families

The diverse array of mutations found, the apparent high mutation rate, as well as the existence of a possible second PJS locus, renders diagnostic or predictive genetic testing in individual patients difficult, although future identification of additional mutations or even gene(s) will help in increasing the yield of direct mutation analysis.

One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome.

Support is provided that mutation of the L KB1 gene is a cause of Peutz-Jeghers syndrome, and the spectrum of LKB1 gene mutations is expanded.

Mutations in the human LKB1/STK11 gene

A review of the literature provides a total of 40 different somatic LKB1 mutations in 41 sporadic tumors and seven cancer cell lines, which are concordant with the germline mutation spectrum.

Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma

The data suggest that LKB1/STK11 may contribute to tumorigenesis in a small fraction of malignant melanomas.

Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature

This study suggests that some other genetic disorders may cause PJS besides LKB1/STK11 gene mutation, and suggests that missense mutations in APC and MSH6 gene may lead to abnormalities in structure and function of their expression products, and may result in the occurrence of PJS.

Lack of STK11 gene expression in homozygous twins with Peutz-Jeghers syndrome.

Investigating abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.
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