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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>STK11</italic> status and intussusception risk in Peutz‐Jeghers syndrome</title><author><name sortKey="Hearle, N" sort="Hearle, N" uniqKey="Hearle N" first="N" last="Hearle">N. Hearle</name></author><author><name sortKey="Schumacher, V" sort="Schumacher, V" uniqKey="Schumacher V" first="V" last="Schumacher">V. Schumacher</name></author><author><name sortKey="Menko, F H" sort="Menko, F H" uniqKey="Menko F" first="F H" last="Menko">F H Menko</name></author><author><name sortKey="Olschwang, S" sort="Olschwang, S" uniqKey="Olschwang S" first="S" last="Olschwang">S. Olschwang</name></author><author><name sortKey="Boardman, L A" sort="Boardman, L A" uniqKey="Boardman L" first="L A" last="Boardman">L A Boardman</name></author><author><name sortKey="Gille, J J P" sort="Gille, J J P" uniqKey="Gille J" first="J J P" last="Gille">J J P. Gille</name></author><author><name sortKey="Keller, J J" sort="Keller, J J" uniqKey="Keller J" first="J J" last="Keller">J J Keller</name></author><author><name sortKey="Westerman, A M" sort="Westerman, A M" uniqKey="Westerman A" first="A M" last="Westerman">A M Westerman</name></author><author><name sortKey="Scott, R J" sort="Scott, R J" uniqKey="Scott R" first="R J" last="Scott">R J Scott</name></author><author><name sortKey="Lim, W" sort="Lim, W" uniqKey="Lim W" first="W" last="Lim">W. Lim</name></author><author><name sortKey="Trimbath, J D" sort="Trimbath, J D" uniqKey="Trimbath J" first="J D" last="Trimbath">J D Trimbath</name></author><author><name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name></author><author><name sortKey="Gruber, S B" sort="Gruber, S B" uniqKey="Gruber S" first="S B" last="Gruber">S B Gruber</name></author><author><name sortKey="Offerhaus, G J A" sort="Offerhaus, G J A" uniqKey="Offerhaus G" first="G J A" last="Offerhaus">G J A. Offerhaus</name></author><author><name sortKey="Rooij, F W M D E" sort="Rooij, F W M D E" uniqKey="Rooij F" first="F W M D E" last="Rooij">F W M D E. Rooij</name></author><author><name sortKey="Wilson, J H P" sort="Wilson, J H P" uniqKey="Wilson J" first="J H P" last="Wilson">J H P. Wilson</name></author><author><name sortKey="Hansmann, A" sort="Hansmann, A" uniqKey="Hansmann A" first="A" last="Hansmann">A. Hansmann</name></author><author><name sortKey="Moslein, G" sort="Moslein, G" uniqKey="Moslein G" first="G" last="Möslein">G. Möslein</name></author><author><name sortKey="Royer Okora, B" sort="Royer Okora, B" uniqKey="Royer Okora B" first="B" last="Royer-Pokora">B. Royer-Pokora</name></author><author><name sortKey="Vogel, T" sort="Vogel, T" uniqKey="Vogel T" first="T" last="Vogel">T. Vogel</name></author><author><name sortKey="Phillips, R K S" sort="Phillips, R K S" uniqKey="Phillips R" first="R K S" last="Phillips">R K S. Phillips</name></author><author><name sortKey="Spigelman, A D" sort="Spigelman, A D" uniqKey="Spigelman A" first="A D" last="Spigelman">A D Spigelman</name></author><author><name sortKey="Houlston, R S" sort="Houlston, R S" uniqKey="Houlston R" first="R S" last="Houlston">R S Houlston</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16882735</idno><idno type="pmc">2564597</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564597</idno><idno type="RBID">PMC:2564597</idno><idno type="doi">10.1136/jmg.2005.040535</idno><date when="2006">2006</date><idno type="wicri:Area/Pmc/Corpus">000F24</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000F24</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>STK11</italic> status and intussusception risk in Peutz‐Jeghers syndrome</title><author><name sortKey="Hearle, N" sort="Hearle, N" uniqKey="Hearle N" first="N" last="Hearle">N. Hearle</name></author><author><name sortKey="Schumacher, V" sort="Schumacher, V" uniqKey="Schumacher V" first="V" last="Schumacher">V. Schumacher</name></author><author><name sortKey="Menko, F H" sort="Menko, F H" uniqKey="Menko F" first="F H" last="Menko">F H Menko</name></author><author><name sortKey="Olschwang, S" sort="Olschwang, S" uniqKey="Olschwang S" first="S" last="Olschwang">S. Olschwang</name></author><author><name sortKey="Boardman, L A" sort="Boardman, L A" uniqKey="Boardman L" first="L A" last="Boardman">L A Boardman</name></author><author><name sortKey="Gille, J J P" sort="Gille, J J P" uniqKey="Gille J" first="J J P" last="Gille">J J P. Gille</name></author><author><name sortKey="Keller, J J" sort="Keller, J J" uniqKey="Keller J" first="J J" last="Keller">J J Keller</name></author><author><name sortKey="Westerman, A M" sort="Westerman, A M" uniqKey="Westerman A" first="A M" last="Westerman">A M Westerman</name></author><author><name sortKey="Scott, R J" sort="Scott, R J" uniqKey="Scott R" first="R J" last="Scott">R J Scott</name></author><author><name sortKey="Lim, W" sort="Lim, W" uniqKey="Lim W" first="W" last="Lim">W. Lim</name></author><author><name sortKey="Trimbath, J D" sort="Trimbath, J D" uniqKey="Trimbath J" first="J D" last="Trimbath">J D Trimbath</name></author><author><name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name></author><author><name sortKey="Gruber, S B" sort="Gruber, S B" uniqKey="Gruber S" first="S B" last="Gruber">S B Gruber</name></author><author><name sortKey="Offerhaus, G J A" sort="Offerhaus, G J A" uniqKey="Offerhaus G" first="G J A" last="Offerhaus">G J A. Offerhaus</name></author><author><name sortKey="Rooij, F W M D E" sort="Rooij, F W M D E" uniqKey="Rooij F" first="F W M D E" last="Rooij">F W M D E. Rooij</name></author><author><name sortKey="Wilson, J H P" sort="Wilson, J H P" uniqKey="Wilson J" first="J H P" last="Wilson">J H P. Wilson</name></author><author><name sortKey="Hansmann, A" sort="Hansmann, A" uniqKey="Hansmann A" first="A" last="Hansmann">A. Hansmann</name></author><author><name sortKey="Moslein, G" sort="Moslein, G" uniqKey="Moslein G" first="G" last="Möslein">G. Möslein</name></author><author><name sortKey="Royer Okora, B" sort="Royer Okora, B" uniqKey="Royer Okora B" first="B" last="Royer-Pokora">B. Royer-Pokora</name></author><author><name sortKey="Vogel, T" sort="Vogel, T" uniqKey="Vogel T" first="T" last="Vogel">T. Vogel</name></author><author><name sortKey="Phillips, R K S" sort="Phillips, R K S" uniqKey="Phillips R" first="R K S" last="Phillips">R K S. Phillips</name></author><author><name sortKey="Spigelman, A D" sort="Spigelman, A D" uniqKey="Spigelman A" first="A D" last="Spigelman">A D Spigelman</name></author><author><name sortKey="Houlston, R S" sort="Houlston, R S" uniqKey="Houlston R" first="R S" last="Houlston">R S Houlston</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Peutz‐Jeghers syndrome (PJS) is caused by germline <italic>STK11</italic> mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients.</p></sec><sec><title>Objective</title><p>To analyse the time to onset of intussusception in a large series of PJS probands.</p></sec><sec><title>Methods</title><p><italic>STK11</italic> mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed.</p></sec><sec><title>Results</title><p>135 (60%) of the probands possessed a germline <italic>STK11</italic> mutation; 109 (48%) probands had a history of intussusception at a median age of 15.0 years but with wide variability (range 3.7 to 45.4 years). Median time to onset of intussusception was not significantly different between those with identified mutations and those with no mutation detected, at 14.7 years and 16.4 years, respectively (log‐rank test of difference, χ<sup>2</sup> = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of <italic>STK11</italic> mutation.</p></sec><sec><title>Conclusions</title><p>The risk of intussusception in PJS is not influenced by <italic>STK11</italic> mutation status.</p></sec></div></front></TEI><pmc article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">16882735</article-id><article-id pub-id-type="pmc">2564597</article-id><article-id pub-id-type="publisher-id">mg40535</article-id><article-id pub-id-type="doi">10.1136/jmg.2005.040535</article-id><article-categories><subj-group subj-group-type="heading"><subject>Electronic Letter</subject></subj-group></article-categories><title-group><article-title><italic>STK11</italic> status and intussusception risk in Peutz‐Jeghers syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hearle</surname><given-names>N</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schumacher</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Menko</surname><given-names>F H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Olschwang</surname><given-names>S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Boardman</surname><given-names>L A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gille</surname><given-names>J J P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Keller</surname><given-names>J J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Westerman</surname><given-names>A M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Scott</surname><given-names>R J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lim</surname><given-names>W</given-names></name></contrib><contrib contrib-type="author"><name><surname>Trimbath</surname><given-names>J D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Giardiello</surname><given-names>F M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gruber</surname><given-names>S B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Offerhaus</surname><given-names>G J A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Rooij</surname><given-names>F W M D E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wilson</surname><given-names>J H P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hansmann</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Möslein</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Royer‐Pokora</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>Vogel</surname><given-names>T</given-names></name></contrib><contrib contrib-type="author"><name><surname>Phillips</surname><given-names>R K S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Spigelman</surname><given-names>A D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Houlston</surname><given-names>R S</given-names></name></contrib></contrib-group><aff><bold>N Hearle</bold>,<bold>W Lim</bold>,<bold>R S Houlston</bold>, Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK</aff><aff><bold>V Schumacher</bold>,<bold>A Hansmann</bold>,<bold>B Royer‐Pokora</bold>, Institute of Human Genetics, Heinrich‐Heine University, Düsseldorf, Germany</aff><aff><bold>F H Menko</bold>,<bold>J J P Gille</bold>, Department of Clinical Genetics and Human Genetics, VU University Medical Centre, Amsterdam, Netherlands</aff><aff><bold>S Olschwang</bold>, Institut Paoli‐Calmettes, INSERM UMR 599, Marseille, France</aff><aff><bold>L A Boardman</bold>, Division of Gastroenterology, Department of Internal Medicine, Mayo Clinic, Mayo Foundation, Rochester, Minnesota, USA</aff><aff><bold>J J Keller</bold>, Department of Pathology, Academic Medical Centre, Amsterdam, Netherlands</aff><aff><bold>G J A Offerhaus</bold>, Department of Pathology, University Medical Centre, Utrecht, Netherlands</aff><aff><bold>A M Westerman</bold>,<bold>F W M D E Rooij</bold>,<bold>J H P Wilson</bold>, Department of Internal Medicine, Erasmus MC University Medical Centre, Rotterdam, Netherlands</aff><aff><bold>R J Scott</bold>, Discipline of Medical Genetics, Faculty of Health, Newcastle and Hunter Medical Research Institute, NSW, Australia</aff><aff><bold>J D Trimbath</bold>,<bold>F M Giardiello</bold>, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA</aff><aff><bold>S B Gruber</bold>, Division of Molecular Medicine and Genetics, University of Michigan, Ann Abor, Michigan, USA</aff><aff><bold>G Möslein</bold>, Department of General and Visceral Surgery, St Josefs‐Hospital Bochum‐Linden, Germany</aff><aff><bold>T Vogel</bold>, Department of General, Visceral and Thoracic Surgery, Klinken Maria Hilf, Mönchengladbach, Germany</aff><aff><bold>R K S Phillips</bold>, Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, UK</aff><aff><bold>A D Spigelman</bold>, Professorial Surgical Unit, Faculty of Medicine, St Vincent's Hospital Clinical School, University of New South Wales (NSW), Sydney; Hunter Family Cancer Service and NSW & ACT Hereditary Cancer Registries, Australia</aff><author-notes><corresp>Correspondence to: Dr Richard S Houlston<break></break>Section of Cancer Genetics, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK; Richard.Houlston@icr.ac.uk</corresp></author-notes><pub-date pub-type="ppub"><month>8</month><year>2006</year></pub-date><volume>43</volume><issue>8</issue><fpage>e41</fpage><lpage>e41</lpage><history><date date-type="received"><day>23</day><month>12</month><year>2005</year></date><date date-type="rev-recd"><day>19</day><month>1</month><year>2006</year></date><date date-type="accepted"><day>23</day><month>1</month><year>2006</year></date></history><permissions><copyright-statement>Copyright ©2006 BMJ Publishing Group Ltd.</copyright-statement></permissions><abstract><sec><title>Background</title><p>Peutz‐Jeghers syndrome (PJS) is caused by germline <italic>STK11</italic> mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients.</p></sec><sec><title>Objective</title><p>To analyse the time to onset of intussusception in a large series of PJS probands.</p></sec><sec><title>Methods</title><p><italic>STK11</italic> mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed.</p></sec><sec><title>Results</title><p>135 (60%) of the probands possessed a germline <italic>STK11</italic> mutation; 109 (48%) probands had a history of intussusception at a median age of 15.0 years but with wide variability (range 3.7 to 45.4 years). Median time to onset of intussusception was not significantly different between those with identified mutations and those with no mutation detected, at 14.7 years and 16.4 years, respectively (log‐rank test of difference, χ<sup>2</sup> = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of <italic>STK11</italic> mutation.</p></sec><sec><title>Conclusions</title><p>The risk of intussusception in PJS is not influenced by <italic>STK11</italic> mutation status.</p></sec></abstract><kwd-group><kwd>Peutz‐Jeghers syndrome</kwd><kwd>STK11</kwd><kwd>intussusception</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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