STK11 status and intussusception risk in Peutz-Jeghers syndrome
Identifieur interne : 009905 ( Main/Exploration ); précédent : 009904; suivant : 009906STK11 status and intussusception risk in Peutz-Jeghers syndrome
Auteurs : N. Hearle [Royaume-Uni] ; V. Schumacher [Allemagne] ; F H Menko [Pays-Bas] ; S. Olschwang [France] ; L A Boardman [États-Unis] ; J J P. Gille [Pays-Bas] ; J J Keller [Pays-Bas] ; A M Westerman [Pays-Bas] ; R J Scott [Australie] ; W. Lim [Royaume-Uni] ; J D Trimbath [États-Unis] ; F M Giardiello [États-Unis] ; S B Gruber [États-Unis] ; G J A. Offerhaus [Pays-Bas] ; F W M D E. Rooij [Pays-Bas] ; J H P. Wilson [Pays-Bas] ; A. Hansmann [Allemagne] ; G. Möslein [Allemagne] ; B. Royer-Pokora [Allemagne] ; T. Vogel [Allemagne] ; R K S. Phillips [Royaume-Uni] ; A D Spigelman [Australie] ; R S Houlston [Royaume-Uni]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2006-08.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
- Amino acids, Cancer genetics, Cancer research, Centre, Clin genet, Deletion, Family history, Functional domains, Genet, Genetic heterogeneity, Genetics, Germline, Germline mutation, Germline mutations, Hereditary cancer registries, Human genetics, Hunter family cancer service, Internal medicine, Intussusception, Intussusception risk, Johns hopkins university school, Kinase, Kinase activity, Kinase domain, Kinase domains, Kinase gene, Mayo clinic, Median time, Missense mutations, Mutation, Mutation status, PJS, Peutz-Jeghers syndrome, Peutz-Jeghers syndrome, Peutzjeghers syndrome, Polyposis registry, Probands, Research institute, STK11, STK11, serine/threonine protein kinase 11, Syndrome, Syndrome patients, Truncating mutations, intussusception.
- Teeft :
- Amino acids, Cancer genetics, Cancer research, Centre, Clin genet, Deletion, Family history, Functional domains, Genet, Genetic heterogeneity, Genetics, Germline, Germline mutation, Germline mutations, Hereditary cancer registries, Human genetics, Hunter family cancer service, Internal medicine, Intussusception, Intussusception risk, Johns hopkins university school, Kinase, Kinase activity, Kinase domain, Kinase domains, Kinase gene, Mayo clinic, Median time, Missense mutations, Mutation, Mutation status, Peutzjeghers syndrome, Polyposis registry, Probands, Research institute, Syndrome, Syndrome patients, Truncating mutations.
Abstract
Background: Peutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients. Objective: To analyse the time to onset of intussusception in a large series of PJS probands. Methods:STK11 mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed. Results: 135 (60%) of the probands possessed a germline STK11 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, χ2 = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation. Conclusions: The risk of intussusception in PJS is not influenced by STK11 mutation status.
Url:
- https://api.istex.fr/document/F73939047EC05E68987AA59E367E58FB17C5F5C9/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564597
DOI: 10.1136/jmg.2005.040535
Affiliations:
- Allemagne, Australie, France, Pays-Bas, Royaume-Uni, États-Unis
- District de Düsseldorf, Hollande-Méridionale, Hollande-Septentrionale, Maryland, Michigan, Minnesota, Provence-Alpes-Côte d'Azur, Rhénanie-du-Nord-Westphalie, Utrecht (province)
- Amsterdam, Düsseldorf, Marseille, Rotterdam, Utrecht
Links toward previous steps (curation, corpus...)
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino acids</term>
<term>Cancer genetics</term>
<term>Cancer research</term>
<term>Centre</term>
<term>Clin genet</term>
<term>Deletion</term>
<term>Family history</term>
<term>Functional domains</term>
<term>Genet</term>
<term>Genetic heterogeneity</term>
<term>Genetics</term>
<term>Germline</term>
<term>Germline mutation</term>
<term>Germline mutations</term>
<term>Hereditary cancer registries</term>
<term>Human genetics</term>
<term>Hunter family cancer service</term>
<term>Internal medicine</term>
<term>Intussusception</term>
<term>Intussusception risk</term>
<term>Johns hopkins university school</term>
<term>Kinase</term>
<term>Kinase activity</term>
<term>Kinase domain</term>
<term>Kinase domains</term>
<term>Kinase gene</term>
<term>Mayo clinic</term>
<term>Median time</term>
<term>Missense mutations</term>
<term>Mutation</term>
<term>Mutation status</term>
<term>PJS, Peutz-Jeghers syndrome</term>
<term>Peutz-Jeghers syndrome</term>
<term>Peutzjeghers syndrome</term>
<term>Polyposis registry</term>
<term>Probands</term>
<term>Research institute</term>
<term>STK11</term>
<term>STK11, serine/threonine protein kinase 11</term>
<term>Syndrome</term>
<term>Syndrome patients</term>
<term>Truncating mutations</term>
<term>intussusception</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Amino acids</term>
<term>Cancer genetics</term>
<term>Cancer research</term>
<term>Centre</term>
<term>Clin genet</term>
<term>Deletion</term>
<term>Family history</term>
<term>Functional domains</term>
<term>Genet</term>
<term>Genetic heterogeneity</term>
<term>Genetics</term>
<term>Germline</term>
<term>Germline mutation</term>
<term>Germline mutations</term>
<term>Hereditary cancer registries</term>
<term>Human genetics</term>
<term>Hunter family cancer service</term>
<term>Internal medicine</term>
<term>Intussusception</term>
<term>Intussusception risk</term>
<term>Johns hopkins university school</term>
<term>Kinase</term>
<term>Kinase activity</term>
<term>Kinase domain</term>
<term>Kinase domains</term>
<term>Kinase gene</term>
<term>Mayo clinic</term>
<term>Median time</term>
<term>Missense mutations</term>
<term>Mutation</term>
<term>Mutation status</term>
<term>Peutzjeghers syndrome</term>
<term>Polyposis registry</term>
<term>Probands</term>
<term>Research institute</term>
<term>Syndrome</term>
<term>Syndrome patients</term>
<term>Truncating mutations</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
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<front><div type="abstract" xml:lang="en">Background: Peutz-Jeghers syndrome (PJS) is caused by germline STK11 mutations and characterised by gastrointestinal polyposis. Although small bowel intussusception is a recognised complication of PJS, risk varies between patients. Objective: To analyse the time to onset of intussusception in a large series of PJS probands. Methods:STK11 mutation status was evaluated in 225 PJS probands and medical histories of the patients reviewed. Results: 135 (60%) of the probands possessed a germline STK11 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, χ2 = 0.58, with 1df; p = 0.45). Similarly no differences were observed between patient groups on the basis of the type or site of STK11 mutation. Conclusions: The risk of intussusception in PJS is not influenced by STK11 mutation status.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>District de Düsseldorf</li>
<li>Hollande-Méridionale</li>
<li>Hollande-Septentrionale</li>
<li>Maryland</li>
<li>Michigan</li>
<li>Minnesota</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Utrecht (province)</li>
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<settlement><li>Amsterdam</li>
<li>Düsseldorf</li>
<li>Marseille</li>
<li>Rotterdam</li>
<li>Utrecht</li>
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<name sortKey="Houlston, R S" sort="Houlston, R S" uniqKey="Houlston R" first="R S" last="Houlston">R S Houlston</name>
<name sortKey="Lim, W" sort="Lim, W" uniqKey="Lim W" first="W" last="Lim">W. Lim</name>
<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>
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<country name="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Schumacher, V" sort="Schumacher, V" uniqKey="Schumacher V" first="V" last="Schumacher">V. Schumacher</name>
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<name sortKey="Hansmann, A" sort="Hansmann, A" uniqKey="Hansmann A" first="A" last="Hansmann">A. Hansmann</name>
<name sortKey="Moslein, G" sort="Moslein, G" uniqKey="Moslein G" first="G" last="Möslein">G. Möslein</name>
<name sortKey="Royer Pokora, B" sort="Royer Pokora, B" uniqKey="Royer Pokora B" first="B" last="Royer-Pokora">B. Royer-Pokora</name>
<name sortKey="Vogel, T" sort="Vogel, T" uniqKey="Vogel T" first="T" last="Vogel">T. Vogel</name>
</country>
<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Menko, F H" sort="Menko, F H" uniqKey="Menko F" first="F H" last="Menko">F H Menko</name>
</region>
<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>
<name sortKey="Keller, J J" sort="Keller, J J" uniqKey="Keller J" first="J J" last="Keller">J J Keller</name>
<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>
<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>
<name sortKey="Westerman, A M" sort="Westerman, A M" uniqKey="Westerman A" first="A M" last="Westerman">A M Westerman</name>
<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>
</country>
<country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Olschwang, S" sort="Olschwang, S" uniqKey="Olschwang S" first="S" last="Olschwang">S. Olschwang</name>
</region>
</country>
<country name="États-Unis"><region name="Minnesota"><name sortKey="Boardman, L A" sort="Boardman, L A" uniqKey="Boardman L" first="L A" last="Boardman">L A Boardman</name>
</region>
<name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name>
<name sortKey="Gruber, S B" sort="Gruber, S B" uniqKey="Gruber S" first="S B" last="Gruber">S B Gruber</name>
<name sortKey="Trimbath, J D" sort="Trimbath, J D" uniqKey="Trimbath J" first="J D" last="Trimbath">J D Trimbath</name>
</country>
<country name="Australie"><noRegion><name sortKey="Scott, R J" sort="Scott, R J" uniqKey="Scott R" first="R J" last="Scott">R J Scott</name>
</noRegion>
<name sortKey="Spigelman, A D" sort="Spigelman, A D" uniqKey="Spigelman A" first="A D" last="Spigelman">A D Spigelman</name>
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</record>
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