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
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Hearle</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Cancer Genetics, Institute of Cancer Research, Sutton</wicri:regionArea><wicri:noRegion>Sutton</wicri:noRegion></affiliation></author><author><name sortKey="Schumacher, V" sort="Schumacher, V" uniqKey="Schumacher V" first="V" last="Schumacher">V. 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Olschwang</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut Paoli-Calmettes, INSERM UMR 599, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Boardman, L A" sort="Boardman, L A" uniqKey="Boardman L" first="L A" last="Boardman">L A Boardman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Gastroenterology, Department of Internal Medicine, Mayo Clinic, Mayo Foundation, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics and Human Genetics, VU University Medical Centre, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Keller, J J" sort="Keller, J J" uniqKey="Keller J" first="J J" last="Keller">J J Keller</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, Academic Medical Centre, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Westerman, A M" sort="Westerman, A M" uniqKey="Westerman A" first="A M" last="Westerman">A M Westerman</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Erasmus MC University Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Scott, R J" sort="Scott, R J" uniqKey="Scott R" first="R J" last="Scott">R J Scott</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Discipline of Medical Genetics, Faculty of Health, Newcastle and Hunter Medical Research Institute, NSW</wicri:regionArea><wicri:noRegion>NSW</wicri:noRegion></affiliation></author><author><name sortKey="Lim, W" sort="Lim, W" uniqKey="Lim W" first="W" last="Lim">W. Lim</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Cancer Genetics, Institute of Cancer Research, Sutton</wicri:regionArea><wicri:noRegion>Sutton</wicri:noRegion></affiliation></author><author><name sortKey="Trimbath, J D" sort="Trimbath, J D" uniqKey="Trimbath J" first="J D" last="Trimbath">J D Trimbath</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Gruber, S B" sort="Gruber, S B" uniqKey="Gruber S" first="S B" last="Gruber">S B Gruber</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Molecular Medicine and Genetics, University of Michigan, Ann Abor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, University Medical Centre, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Erasmus MC University Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></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><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Internal Medicine, Erasmus MC University Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hansmann, A" sort="Hansmann, A" uniqKey="Hansmann A" first="A" last="Hansmann">A. Hansmann</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Heinrich-Heine University, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Moslein, G" sort="Moslein, G" uniqKey="Moslein G" first="G" last="Möslein">G. Möslein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of General and Visceral Surgery, St Josefs-Hospital Bochum-Linden</wicri:regionArea><wicri:noRegion>St Josefs-Hospital Bochum-Linden</wicri:noRegion><wicri:noRegion>St Josefs-Hospital Bochum-Linden</wicri:noRegion></affiliation></author><author><name sortKey="Royer Pokora, B" sort="Royer Pokora, B" uniqKey="Royer Pokora B" first="B" last="Royer-Pokora">B. Royer-Pokora</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Heinrich-Heine University, Düsseldorf</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Düsseldorf</region><settlement type="city">Düsseldorf</settlement></placeName></affiliation></author><author><name sortKey="Vogel, T" sort="Vogel, T" uniqKey="Vogel T" first="T" last="Vogel">T. Vogel</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of General, Visceral and Thoracic Surgery, Klinken Maria Hilf, Mönchengladbach</wicri:regionArea><wicri:noRegion>Mönchengladbach</wicri:noRegion><wicri:noRegion>Mönchengladbach</wicri:noRegion></affiliation></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><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Polyposis Registry, St Mark’s Hospital, Watford Road, Harrow</wicri:regionArea><wicri:noRegion>Harrow</wicri:noRegion></affiliation></author><author><name sortKey="Spigelman, A D" sort="Spigelman, A D" uniqKey="Spigelman A" first="A D" last="Spigelman">A D Spigelman</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>Sydney; Hunter Family Cancer Service and NSW & ACT Hereditary Cancer Registries</wicri:noRegion></affiliation></author><author><name sortKey="Houlston, R S" sort="Houlston, R S" uniqKey="Houlston R" first="R S" last="Houlston">R S Houlston</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Cancer Genetics, Institute of Cancer Research, Sutton</wicri:regionArea><wicri:noRegion>Sutton</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2006-08">2006-08</date><biblScope unit="volume">43</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="41">e41</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><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></langUsage></profileDesc></teiHeader><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></region><settlement><li>Amsterdam</li><li>Düsseldorf</li><li>Marseille</li><li>Rotterdam</li><li>Utrecht</li></settlement></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Hearle, N" sort="Hearle, N" uniqKey="Hearle N" first="N" last="Hearle">N. Hearle</name></noRegion><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></country><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></region><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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