Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21
Identifieur interne : 000003 ( Pmc/Corpus ); précédent : 000002; suivant : 000004Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21
Auteurs : James D. Mckay ; Fabienne Lesueur ; Laurence Jonard ; Alessandro Pastore ; Jan Williamson ; Linda Hoffman ; John Burgess ; Anne Duffield ; Mauro Papotti ; Markus Stark ; Hagay Sobol ; Béatrice Maes ; Arnaud Murat ; Helena K Ri Inen ; Mireille Bertholon-Grégoire ; Michele Zini ; Mary Anne Rossing ; Marie-Elisabeth Toubert ; Françoise Bonichon ; Marie Cavarec ; Anne-Marie Bernard ; Andrée Boneu ; Frédéric Leprat ; Oskar Haas ; Christine Lasset ; Martin Schlumberger ; Federico Canzian ; David E. Goldgar ; Giovanni RomeoSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2001.
Abstract
The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart. In a large Tasmanian pedigree (Tas1) with recurrence of papillary thyroid carcinoma (PTC), the most common form of NMTC, an extensive genomewide scan revealed a common haplotype on chromosome 2q21 in seven of the eight patients with PTC. To verify the significance of the 2q21 locus, we performed linkage analysis in an independent sample set of 80 pedigrees, yielding a multipoint heterogeneity LOD score (HLOD) of 3.07 (
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PubMed: 11438887
PubMed Central: 1235316
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21</title><author><name sortKey="Mckay, James D" sort="Mckay, James D" uniqKey="Mckay J" first="James D." last="Mckay">James D. Mckay</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Jonard, Laurence" sort="Jonard, Laurence" uniqKey="Jonard L" first="Laurence" last="Jonard">Laurence Jonard</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Pastore, Alessandro" sort="Pastore, Alessandro" uniqKey="Pastore A" first="Alessandro" last="Pastore">Alessandro Pastore</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Williamson, Jan" sort="Williamson, Jan" uniqKey="Williamson J" first="Jan" last="Williamson">Jan Williamson</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Hoffman, Linda" sort="Hoffman, Linda" uniqKey="Hoffman L" first="Linda" last="Hoffman">Linda Hoffman</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Burgess, John" sort="Burgess, John" uniqKey="Burgess J" first="John" last="Burgess">John Burgess</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Duffield, Anne" sort="Duffield, Anne" uniqKey="Duffield A" first="Anne" last="Duffield">Anne Duffield</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Papotti, Mauro" sort="Papotti, Mauro" uniqKey="Papotti M" first="Mauro" last="Papotti">Mauro Papotti</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Dipartimento di Anatomia Patologica, University of Turin, Turin, Italy;</nlm:aff></affiliation></author><author><name sortKey="Stark, Markus" sort="Stark, Markus" uniqKey="Stark M" first="Markus" last="Stark">Markus Stark</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Sobol, Hagay" sort="Sobol, Hagay" uniqKey="Sobol H" first="Hagay" last="Sobol">Hagay Sobol</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Maes, Beatrice" sort="Maes, Beatrice" uniqKey="Maes B" first="Béatrice" last="Maes">Béatrice Maes</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims, France;</nlm:aff></affiliation></author><author><name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes, France;</nlm:aff></affiliation></author><author><name sortKey="K Ri Inen, Helena" sort="K Ri Inen, Helena" uniqKey="K Ri Inen H" first="Helena" last="K Ri Inen">Helena K Ri Inen</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Department of Medical Genetics, University of Helsinki, Helsinki;</nlm:aff></affiliation></author><author><name sortKey="Bertholon Gregoire, Mireille" sort="Bertholon Gregoire, Mireille" uniqKey="Bertholon Gregoire M" first="Mireille" last="Bertholon-Grégoire">Mireille Bertholon-Grégoire</name><affiliation><nlm:aff wicri:cut=", and" id="N0x97a8ac0.0x9820c68">Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille</nlm:aff></affiliation></author><author><name sortKey="Zini, Michele" sort="Zini, Michele" uniqKey="Zini M" first="Michele" last="Zini">Michele Zini</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia, Italy;</nlm:aff></affiliation></author><author><name sortKey="Rossing, Mary Anne" sort="Rossing, Mary Anne" uniqKey="Rossing M" first="Mary Anne" last="Rossing">Mary Anne Rossing</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle;</nlm:aff></affiliation></author><author><name sortKey="Toubert, Marie Elisabeth" sort="Toubert, Marie Elisabeth" uniqKey="Toubert M" first="Marie-Elisabeth" last="Toubert">Marie-Elisabeth Toubert</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service Central de Médecine Nucléaire, Hôpital Saint Louis, Paris;</nlm:aff></affiliation></author><author><name sortKey="Bonichon, Francoise" sort="Bonichon, Francoise" uniqKey="Bonichon F" first="Françoise" last="Bonichon">Françoise Bonichon</name><affiliation><nlm:aff wicri:cut=", and" id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Bergonié</nlm:aff></affiliation></author><author><name sortKey="Cavarec, Marie" sort="Cavarec, Marie" uniqKey="Cavarec M" first="Marie" last="Cavarec">Marie Cavarec</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, CHU Morvan, Brest, France;</nlm:aff></affiliation></author><author><name sortKey="Bernard, Anne Marie" sort="Bernard, Anne Marie" uniqKey="Bernard A" first="Anne-Marie" last="Bernard">Anne-Marie Bernard</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Médecine Nucléaire, Centre Eugène Marquis, Rennes, France;</nlm:aff></affiliation></author><author><name sortKey="Boneu, Andree" sort="Boneu, Andree" uniqKey="Boneu A" first="Andrée" last="Boneu">Andrée Boneu</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Leprat, Frederic" sort="Leprat, Frederic" uniqKey="Leprat F" first="Frédéric" last="Leprat">Frédéric Leprat</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux, France;</nlm:aff></affiliation></author><author><name sortKey="Haas, Oskar" sort="Haas, Oskar" uniqKey="Haas O" first="Oskar" last="Haas">Oskar Haas</name><affiliation><nlm:aff wicri:cut="; and" id="N0x97a8ac0.0x9820c68">CCRI, St. Anna Children’s Hospital, Vienna</nlm:aff></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon, France;</nlm:aff></affiliation></author><author><name sortKey="Schlumberger, Martin" sort="Schlumberger, Martin" uniqKey="Schlumberger M" first="Martin" last="Schlumberger">Martin Schlumberger</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">11438887</idno><idno type="pmc">1235316</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1235316</idno><idno type="RBID">PMC:1235316</idno><date when="2001">2001</date><idno type="wicri:Area/Pmc/Corpus">000003</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000003</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21</title><author><name sortKey="Mckay, James D" sort="Mckay, James D" uniqKey="Mckay J" first="James D." last="Mckay">James D. Mckay</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Jonard, Laurence" sort="Jonard, Laurence" uniqKey="Jonard L" first="Laurence" last="Jonard">Laurence Jonard</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Pastore, Alessandro" sort="Pastore, Alessandro" uniqKey="Pastore A" first="Alessandro" last="Pastore">Alessandro Pastore</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Williamson, Jan" sort="Williamson, Jan" uniqKey="Williamson J" first="Jan" last="Williamson">Jan Williamson</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Hoffman, Linda" sort="Hoffman, Linda" uniqKey="Hoffman L" first="Linda" last="Hoffman">Linda Hoffman</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Burgess, John" sort="Burgess, John" uniqKey="Burgess J" first="John" last="Burgess">John Burgess</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Duffield, Anne" sort="Duffield, Anne" uniqKey="Duffield A" first="Anne" last="Duffield">Anne Duffield</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Royal Hobart Hospital, Hobart, Tasmania, Australia;</nlm:aff></affiliation></author><author><name sortKey="Papotti, Mauro" sort="Papotti, Mauro" uniqKey="Papotti M" first="Mauro" last="Papotti">Mauro Papotti</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Dipartimento di Anatomia Patologica, University of Turin, Turin, Italy;</nlm:aff></affiliation></author><author><name sortKey="Stark, Markus" sort="Stark, Markus" uniqKey="Stark M" first="Markus" last="Stark">Markus Stark</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Sobol, Hagay" sort="Sobol, Hagay" uniqKey="Sobol H" first="Hagay" last="Sobol">Hagay Sobol</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Maes, Beatrice" sort="Maes, Beatrice" uniqKey="Maes B" first="Béatrice" last="Maes">Béatrice Maes</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims, France;</nlm:aff></affiliation></author><author><name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes, France;</nlm:aff></affiliation></author><author><name sortKey="K Ri Inen, Helena" sort="K Ri Inen, Helena" uniqKey="K Ri Inen H" first="Helena" last="K Ri Inen">Helena K Ri Inen</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Department of Medical Genetics, University of Helsinki, Helsinki;</nlm:aff></affiliation></author><author><name sortKey="Bertholon Gregoire, Mireille" sort="Bertholon Gregoire, Mireille" uniqKey="Bertholon Gregoire M" first="Mireille" last="Bertholon-Grégoire">Mireille Bertholon-Grégoire</name><affiliation><nlm:aff wicri:cut=", and" id="N0x97a8ac0.0x9820c68">Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille</nlm:aff></affiliation></author><author><name sortKey="Zini, Michele" sort="Zini, Michele" uniqKey="Zini M" first="Michele" last="Zini">Michele Zini</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia, Italy;</nlm:aff></affiliation></author><author><name sortKey="Rossing, Mary Anne" sort="Rossing, Mary Anne" uniqKey="Rossing M" first="Mary Anne" last="Rossing">Mary Anne Rossing</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle;</nlm:aff></affiliation></author><author><name sortKey="Toubert, Marie Elisabeth" sort="Toubert, Marie Elisabeth" uniqKey="Toubert M" first="Marie-Elisabeth" last="Toubert">Marie-Elisabeth Toubert</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service Central de Médecine Nucléaire, Hôpital Saint Louis, Paris;</nlm:aff></affiliation></author><author><name sortKey="Bonichon, Francoise" sort="Bonichon, Francoise" uniqKey="Bonichon F" first="Françoise" last="Bonichon">Françoise Bonichon</name><affiliation><nlm:aff wicri:cut=", and" id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Bergonié</nlm:aff></affiliation></author><author><name sortKey="Cavarec, Marie" sort="Cavarec, Marie" uniqKey="Cavarec M" first="Marie" last="Cavarec">Marie Cavarec</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, CHU Morvan, Brest, France;</nlm:aff></affiliation></author><author><name sortKey="Bernard, Anne Marie" sort="Bernard, Anne Marie" uniqKey="Bernard A" first="Anne-Marie" last="Bernard">Anne-Marie Bernard</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Médecine Nucléaire, Centre Eugène Marquis, Rennes, France;</nlm:aff></affiliation></author><author><name sortKey="Boneu, Andree" sort="Boneu, Andree" uniqKey="Boneu A" first="Andrée" last="Boneu">Andrée Boneu</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse, France;</nlm:aff></affiliation></author><author><name sortKey="Leprat, Frederic" sort="Leprat, Frederic" uniqKey="Leprat F" first="Frédéric" last="Leprat">Frédéric Leprat</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux, France;</nlm:aff></affiliation></author><author><name sortKey="Haas, Oskar" sort="Haas, Oskar" uniqKey="Haas O" first="Oskar" last="Haas">Oskar Haas</name><affiliation><nlm:aff wicri:cut="; and" id="N0x97a8ac0.0x9820c68">CCRI, St. Anna Children’s Hospital, Vienna</nlm:aff></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon, France;</nlm:aff></affiliation></author><author><name sortKey="Schlumberger, Martin" sort="Schlumberger, Martin" uniqKey="Schlumberger M" first="Martin" last="Schlumberger">Martin Schlumberger</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation><nlm:aff id="N0x97a8ac0.0x9820c68">International Agency for Research on Cancer,</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2001">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart. In a large Tasmanian pedigree (Tas1) with recurrence of papillary thyroid carcinoma (PTC), the most common form of NMTC, an extensive genomewide scan revealed a common haplotype on chromosome 2q21 in seven of the eight patients with PTC. To verify the significance of the 2q21 locus, we performed linkage analysis in an independent sample set of 80 pedigrees, yielding a multipoint heterogeneity LOD score (HLOD) of 3.07 (<inline-formula>α=0.42</inline-formula>), nonparametric linkage (NPL) 3.19, (<inline-formula><italic>P</italic>=.001</inline-formula>) at marker D2S2271. Stratification based on the presence of at least one case of the follicular variant of PTC, the phenotype observed in the Tas1 family, identified 17 such pedigrees, yielding a maximal HLOD score of 4.17 (<inline-formula>α=0.80</inline-formula>) and <inline-formula><italic>NPL</italic>=4.99</inline-formula> (<inline-formula><italic>P</italic>=.00002</inline-formula>) at markers AFMa272zg9 and D2S2271, respectively. These results indicate the existence of a susceptibility locus for familial NMTC on chromosome 2q21.</p></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">Am J Hum Genet</journal-id><journal-id journal-id-type="publisher-id">AJHG</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>The American Society of Human Genetics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">11438887</article-id><article-id pub-id-type="pmc">1235316</article-id><article-id pub-id-type="publisher-id">012868</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21</article-title><alt-title>A Susceptibility Gene for FNMTC on 2q21</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>McKay</surname><given-names>James D.</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Lesueur</surname><given-names>Fabienne</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Jonard</surname><given-names>Laurence</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Pastore</surname><given-names>Alessandro</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Williamson</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">4</xref></contrib><contrib contrib-type="author"><name><surname>Hoffman</surname><given-names>Linda</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">4</xref></contrib><contrib contrib-type="author"><name><surname>Burgess</surname><given-names>John</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">4</xref></contrib><contrib contrib-type="author"><name><surname>Duffield</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">4</xref></contrib><contrib contrib-type="author"><name><surname>Papotti</surname><given-names>Mauro</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">5</xref></contrib><contrib contrib-type="author"><name><surname>Stark</surname><given-names>Markus</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Sobol</surname><given-names>Hagay</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Maes</surname><given-names>Béatrice</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">6</xref></contrib><contrib contrib-type="author"><name><surname>Murat</surname><given-names>Arnaud</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">7</xref></contrib><contrib contrib-type="author"><name><surname>Kääriäinen</surname><given-names>Helena</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">8</xref></contrib><contrib contrib-type="author"><name><surname>Bertholon-Grégoire</surname><given-names>Mireille</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">2</xref></contrib><contrib contrib-type="author"><name><surname>Zini</surname><given-names>Michele</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">9</xref></contrib><contrib contrib-type="author"><name><surname>Rossing</surname><given-names>Mary Anne</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">10</xref></contrib><contrib contrib-type="author"><name><surname>Toubert</surname><given-names>Marie-Elisabeth</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">11</xref></contrib><contrib contrib-type="author"><name><surname>Bonichon</surname><given-names>Françoise</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">12</xref></contrib><contrib contrib-type="author"><name><surname>Cavarec</surname><given-names>Marie</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">14</xref></contrib><contrib contrib-type="author"><name><surname>Bernard</surname><given-names>Anne-Marie</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">15</xref></contrib><contrib contrib-type="author"><name><surname>Boneu</surname><given-names>Andrée</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">16</xref></contrib><contrib contrib-type="author"><name><surname>Leprat</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">13</xref></contrib><contrib contrib-type="author"><name><surname>Haas</surname><given-names>Oskar</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">17</xref></contrib><contrib contrib-type="author"><name><surname>Lasset</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">3</xref></contrib><contrib contrib-type="author"><name><surname>Schlumberger</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">18</xref></contrib><contrib contrib-type="author"><name><surname>Canzian</surname><given-names>Federico</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Goldgar</surname><given-names>David E.</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib><contrib contrib-type="author"><name><surname>Romeo</surname><given-names>Giovanni</given-names></name><xref ref-type="aff" rid="N0x97a8ac0.0x9820c68">1</xref></contrib></contrib-group><aff id="N0x97a8ac0.0x9820c68"><sup>1</sup>International Agency for Research on Cancer,<sup>2</sup>Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille, and<sup>3</sup>Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon, France;<sup>4</sup>Royal Hobart Hospital, Hobart, Tasmania, Australia;<sup>5</sup>Dipartimento di Anatomia Patologica, University of Turin, Turin, Italy;<sup>6</sup>Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims, France;<sup>7</sup>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes, France;<sup>8</sup>Department of Medical Genetics, University of Helsinki, Helsinki;<sup>9</sup>Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia, Italy;<sup>10</sup>Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle;<sup>11</sup>Service Central de Médecine Nucléaire, Hôpital Saint Louis, Paris;<sup>12</sup>Service de Médecine Nucléaire, Institut Bergonié, and<sup>13</sup>Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux, France;<sup>14</sup>Service de Médecine Nucléaire, CHU Morvan, Brest, France;<sup>15</sup>Médecine Nucléaire, Centre Eugène Marquis, Rennes, France;<sup>16</sup>Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse, France;<sup>17</sup>CCRI, St. Anna Children’s Hospital, Vienna; and<sup>18</sup>Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif, France</aff><author-notes><corresp>Address for correspondence and reprints: Dr. Giovanni Romeo, International Agency for Research on Cancer, 150, cours Albert-Thomas, 69372 Lyon, cedex 08, France. E-mail: <email>romeo@iarc.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>8</month><year>2001</year></pub-date><pub-date pub-type="epub"><day>2</day><month>7</month><year>2001</year></pub-date><volume>69</volume><issue>2</issue><fpage>440</fpage><lpage>446</lpage><history><date date-type="received"><day>10</day><month>4</month><year>2001</year></date><date date-type="accepted"><day>12</day><month>6</month><year>2001</year></date></history><copyright-statement>© 2001 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2001</copyright-year><self-uri>11438887</self-uri><abstract><p>The familial form of nonmedullary thyroid carcinoma (NMTC) is a complex genetic disorder characterized by multifocal neoplasia and a higher degree of aggressiveness than its sporadic counterpart. In a large Tasmanian pedigree (Tas1) with recurrence of papillary thyroid carcinoma (PTC), the most common form of NMTC, an extensive genomewide scan revealed a common haplotype on chromosome 2q21 in seven of the eight patients with PTC. To verify the significance of the 2q21 locus, we performed linkage analysis in an independent sample set of 80 pedigrees, yielding a multipoint heterogeneity LOD score (HLOD) of 3.07 (<inline-formula>α=0.42</inline-formula>), nonparametric linkage (NPL) 3.19, (<inline-formula><italic>P</italic>=.001</inline-formula>) at marker D2S2271. Stratification based on the presence of at least one case of the follicular variant of PTC, the phenotype observed in the Tas1 family, identified 17 such pedigrees, yielding a maximal HLOD score of 4.17 (<inline-formula>α=0.80</inline-formula>) and <inline-formula><italic>NPL</italic>=4.99</inline-formula> (<inline-formula><italic>P</italic>=.00002</inline-formula>) at markers AFMa272zg9 and D2S2271, respectively. These results indicate the existence of a susceptibility locus for familial NMTC on chromosome 2q21.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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