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dc.contributor.authorTchekmedyian, Asadur
dc.contributor.authorAmos, Christopher I.
dc.contributor.authorBale, Sherri J.
dc.contributor.authorZhu, Dakai
dc.contributor.authorArold, Stefan T.
dc.contributor.authorBerrueta, Joaquin
dc.contributor.authorNabon, Natalie
dc.contributor.authorMcGarrity, Thomas
dc.date.accessioned2014-08-27T09:47:11Z
dc.date.available2014-08-27T09:47:11Z
dc.date.issued2013-11-19
dc.identifier.citationTchekmedyian A, Amos CI, Bale SJ, Zhu D, Arold S, et al. (2013) Findings from the Peutz-Jeghers Syndrome Registry of Uruguay. PLoS ONE 8: e79639. doi:10.1371/journal.pone.0079639.
dc.identifier.issn19326203
dc.identifier.pmid24260271
dc.identifier.doi10.1371/journal.pone.0079639
dc.identifier.urihttp://hdl.handle.net/10754/325328
dc.description.abstractBackground: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation. © 2013 Tchekmedyian et al.
dc.language.isoen
dc.publisherPublic Library of Science (PLoS)
dc.rightsThis is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/
dc.subjectadolescent
dc.subjectadult
dc.subjectage
dc.subjectaged
dc.subjectamino acid substitution
dc.subjectbreast cancer
dc.subjectcalcification
dc.subjectcancer mortality
dc.subjectcause of death
dc.subjectchild
dc.subjectclinical article
dc.subjectclinical study
dc.subjectcolon polyp
dc.subjectcolonoscopy
dc.subjectcontrolled study
dc.subjectexon
dc.subjectgastrointestinal hamartoma
dc.subjectgastrointestinal polyposis
dc.subjectgene
dc.subjectgene deletion
dc.subjectgene sequence
dc.subjectgene structure
dc.subjectgenetic association
dc.subjectgenetics
dc.subjecthamartoma
dc.subjecthistopathology
dc.subjectincidence
dc.subjectintestine cancer
dc.subjectintestine intussusception
dc.subjectintestine obstruction
dc.subjectintestine surgery
dc.subjectiron deficiency anemia
dc.subjectkidney cancer
dc.subjectleg disease
dc.subjectleg fibrosarcoma
dc.subjectlive birth
dc.subjectlung cancer
dc.subjectmalignant neoplastic disease
dc.subjectmissense mutation
dc.subjectmortality
dc.subjectPeutz Jeghers syndrome
dc.subjectpigmentation
dc.subjectpostoperative complication
dc.subjectprivate hospital
dc.subjectpublic hospital
dc.subjectrectum cancer
dc.subjectschool child
dc.subjectseizure
dc.subjectsex ratio
dc.subjectSK11 gene
dc.subjecttestis disease
dc.subjectthyroid cancer
dc.titleFindings from the Peutz-Jeghers syndrome registry of Uruguay
dc.typeArticle
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.identifier.journalPLoS ONE
dc.identifier.pmcidPMC3834183
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionGastroenterology, Pasteur Hospital, Ministry of Public Health, Montevideo, Uruguay
dc.contributor.institutionDepartment of Community and Family Medicine, Geisel School of Medicine, Dartmouth College, Lebanon, NH, United States
dc.contributor.institutionGeneDx, Gaithersburg, MD, United States
dc.contributor.institutionDepartment of Biochemistry and Molecular Biology, Center for Biomolecular Structure and Function, University of Texas, Houston, TX, United States
dc.contributor.institutionDepartment of Gastroenterology, National School of Medicine, Universidad de la Republica, Montevideo, Uruguay
dc.contributor.institutionDepartment of Medicine, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey, PA, United States
dc.contributor.affiliationKing Abdullah University of Science and Technology (KAUST)
kaust.personArold, Stefan T.
refterms.dateFOA2018-06-13T15:04:32Z


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This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Except where otherwise noted, this item's license is described as This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.