Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21
Identifieur interne : 001B59 ( Istex/Curation ); précédent : 001B58; suivant : 001B60Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21
Auteurs : James D. Mckay [France] ; Fabienne Lesueur [France] ; Laurence Jonard [France] ; Alessandro Pastore [France] ; Jan Williamson [Australie] ; Linda Hoffman [Australie] ; John Burgess [Australie] ; Anne Duffield [Australie] ; Mauro Papotti [Italie] ; Markus Stark [France] ; Hagay Sobol [France] ; Béatrice Maes [France] ; Arnaud Murat [France] ; Helena K Ri Inen [Finlande] ; Mireille Bertholon-Grégoire [France] ; Michele Zini [Italie] ; Mary Anne Rossing ; Marie-Elisabeth Toubert [France] ; Françoise Bonichon [France] ; Marie Cavarec [France] ; Anne-Marie Bernard [France] ; Andrée Boneu [France] ; Frédéric Leprat [France] ; Oskar Haas ; Christine Lasset [France] ; Martin Schlumberger [France] ; Federico Canzian [France] ; David E. Goldgar [France] ; Giovanni Romeo [France]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 2001.
English descriptors
- KwdEn :
- Accession number, Benign, Benign thyroid disease, Benign thyroid disorders, Canzian, Carcinoma, Cell oxyphilia, Chromosome, Clin endocrinol metab, Common form, Common haplotype, Comparative genomic hybridization, Critical region, Extensive genomewide scan, Familial, Familial form, Familial nonmedullary thyroid cancer, Fnmtc, Fnmtc pedigrees, Follicular, Follicular variant, Fvptc, Genet, Genetic distances, Genetic location database, Genetic maps, Goiter, Haplotype, Higher degree, Histological subtype, Hlod, International agency, International consortium, Large tasmanian family, Lesueur, Linkage, Linkage analysis, Locus, Medecine nucleaire, Medical genetics, Multinodular goiter, Neoplastic disease, Nmtc, Nmtc patients, Nmtc risk, Nonmedullary thyroid carcinoma, Nonparametric linkage analysis, Nucleaire, Papillary, Papillary thyroid carcinoma, Pax8 gene, Previous studies, Sporadic counterpart, Susceptibility, Susceptibility gene, Susceptibility locus, Tas1, Tas1 family, Tasmania, Tasmanian, Thyrocyte growth, Thyroid carcinoma, Unpublished data, Years years years.
- Teeft :
- Accession number, Benign, Benign thyroid disease, Benign thyroid disorders, Canzian, Carcinoma, Cell oxyphilia, Chromosome, Clin endocrinol metab, Common form, Common haplotype, Comparative genomic hybridization, Critical region, Extensive genomewide scan, Familial, Familial form, Familial nonmedullary thyroid cancer, Fnmtc, Fnmtc pedigrees, Follicular, Follicular variant, Fvptc, Genet, Genetic distances, Genetic location database, Genetic maps, Goiter, Haplotype, Higher degree, Histological subtype, Hlod, International agency, International consortium, Large tasmanian family, Lesueur, Linkage, Linkage analysis, Locus, Medecine nucleaire, Medical genetics, Multinodular goiter, Neoplastic disease, Nmtc, Nmtc patients, Nmtc risk, Nonmedullary thyroid carcinoma, Nonparametric linkage analysis, Nucleaire, Papillary, Papillary thyroid carcinoma, Pax8 gene, Previous studies, Sporadic counterpart, Susceptibility, Susceptibility gene, Susceptibility locus, Tas1, Tas1 family, Tasmania, Tasmanian, Thyrocyte growth, Thyroid carcinoma, Unpublished data, Years years years.
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 (α=0.42), nonparametric linkage (NPL) 3.19, (P=.001) 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 (α=0.80) and NPL=4.99 (P=.00002) at markers AFMa272zg9 and D2S2271, respectively. These results indicate the existence of a susceptibility locus for familial NMTC on chromosome 2q21.
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DOI: 10.1086/321979
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Mary Anne Rossing<affiliation><mods:affiliation>Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></affiliation><affiliation><mods:affiliation>CCRI, St. Anna Children’s Hospital, Vienna; and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation>Le document en format XML
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sort="Sobol, Hagay" uniqKey="Sobol H" first="Hagay" last="Sobol">Hagay Sobol</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Maes, Beatrice" sort="Maes, Beatrice" uniqKey="Maes B" first="Béatrice" last="Maes">Béatrice Maes</name><affiliation wicri:level="1"><mods:affiliation>Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims</wicri:regionArea></affiliation></author><author><name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name><affiliation wicri:level="1"><mods:affiliation>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes</wicri:regionArea></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 wicri:level="4"><mods:affiliation>Department of Medical Genetics, University of Helsinki, Helsinki</mods:affiliation><orgName type="university">Université d'Helsinki</orgName><country>Finlande</country><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></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 wicri:level="1"><mods:affiliation>Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Zini, Michele" sort="Zini, Michele" uniqKey="Zini M" first="Michele" last="Zini">Michele Zini</name><affiliation wicri:level="1"><mods:affiliation>Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia</wicri:regionArea></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><mods:affiliation>Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></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 wicri:level="3"><mods:affiliation>Service Central de Médecine Nucléaire, Hôpital Saint Louis, Paris</mods:affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Service Central de Médecine Nucléaire, Hôpital Saint Louis</wicri:orgArea></affiliation></author><author><name sortKey="Bonichon, Francoise" sort="Bonichon, Francoise" uniqKey="Bonichon F" first="Françoise" last="Bonichon">Françoise Bonichon</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Bergonié Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Bergonié Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Cavarec, Marie" sort="Cavarec, Marie" uniqKey="Cavarec M" first="Marie" last="Cavarec">Marie Cavarec</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, CHU Morvan, Brest, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, CHU Morvan, Brest</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Médecine Nucléaire, Centre Eugène Marquis, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Médecine Nucléaire, Centre Eugène Marquis, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Boneu, Andree" sort="Boneu, Andree" uniqKey="Boneu A" first="Andrée" last="Boneu">Andrée Boneu</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Leprat, Frederic" sort="Leprat, Frederic" uniqKey="Leprat F" first="Frédéric" last="Leprat">Frédéric Leprat</name><affiliation wicri:level="1"><mods:affiliation>Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Haas, Oskar" sort="Haas, Oskar" uniqKey="Haas O" first="Oskar" last="Haas">Oskar Haas</name><affiliation><mods:affiliation>CCRI, St. Anna Children’s Hospital, Vienna; and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation wicri:level="1"><mods:affiliation>Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Schlumberger, Martin" sort="Schlumberger, Martin" uniqKey="Schlumberger M" first="Martin" last="Schlumberger">Martin Schlumberger</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif</wicri:regionArea></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation wicri:level="1"><mods:affiliation>E-mail: romeo@iarc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:916FD9E1C60B8013513E3D1E29CEB9C71D982A54</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1086/321979</idno><idno type="url">https://api.istex.fr/document/916FD9E1C60B8013513E3D1E29CEB9C71D982A54/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001B59</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001B59</idno><idno type="wicri:Area/Istex/Curation">001B59</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" 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 wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Lesueur, Fabienne" sort="Lesueur, Fabienne" uniqKey="Lesueur F" first="Fabienne" last="Lesueur">Fabienne Lesueur</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Jonard, Laurence" sort="Jonard, Laurence" uniqKey="Jonard L" first="Laurence" last="Jonard">Laurence Jonard</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Pastore, Alessandro" sort="Pastore, Alessandro" uniqKey="Pastore A" first="Alessandro" last="Pastore">Alessandro Pastore</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Williamson, Jan" sort="Williamson, Jan" uniqKey="Williamson J" first="Jan" last="Williamson">Jan Williamson</name><affiliation wicri:level="1"><mods:affiliation>Royal Hobart Hospital, Hobart, Tasmania, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Hobart Hospital, Hobart, Tasmania</wicri:regionArea></affiliation></author><author><name sortKey="Hoffman, Linda" sort="Hoffman, Linda" uniqKey="Hoffman L" first="Linda" last="Hoffman">Linda Hoffman</name><affiliation wicri:level="1"><mods:affiliation>Royal Hobart Hospital, Hobart, Tasmania, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Hobart Hospital, Hobart, Tasmania</wicri:regionArea></affiliation></author><author><name sortKey="Burgess, John" sort="Burgess, John" uniqKey="Burgess J" first="John" last="Burgess">John Burgess</name><affiliation wicri:level="1"><mods:affiliation>Royal Hobart Hospital, Hobart, Tasmania, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Hobart Hospital, Hobart, Tasmania</wicri:regionArea></affiliation></author><author><name sortKey="Duffield, Anne" sort="Duffield, Anne" uniqKey="Duffield A" first="Anne" last="Duffield">Anne Duffield</name><affiliation wicri:level="1"><mods:affiliation>Royal Hobart Hospital, Hobart, Tasmania, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Hobart Hospital, Hobart, Tasmania</wicri:regionArea></affiliation></author><author><name sortKey="Papotti, Mauro" sort="Papotti, Mauro" uniqKey="Papotti M" first="Mauro" last="Papotti">Mauro Papotti</name><affiliation wicri:level="1"><mods:affiliation>Dipartimento di Anatomia Patologica, University of Turin, Turin, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Anatomia Patologica, University of Turin, Turin</wicri:regionArea></affiliation></author><author><name sortKey="Stark, Markus" sort="Stark, Markus" uniqKey="Stark M" first="Markus" last="Stark">Markus Stark</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Sobol, Hagay" sort="Sobol, Hagay" uniqKey="Sobol H" first="Hagay" last="Sobol">Hagay Sobol</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Maes, Beatrice" sort="Maes, Beatrice" uniqKey="Maes B" first="Béatrice" last="Maes">Béatrice Maes</name><affiliation wicri:level="1"><mods:affiliation>Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité de Médecine Nucléaire et Biophysique 2, Institut Jean-Godinot, Reims</wicri:regionArea></affiliation></author><author><name sortKey="Murat, Arnaud" sort="Murat, Arnaud" uniqKey="Murat A" first="Arnaud" last="Murat">Arnaud Murat</name><affiliation wicri:level="1"><mods:affiliation>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, Hôtel Dieu, Nantes</wicri:regionArea></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 wicri:level="4"><mods:affiliation>Department of Medical Genetics, University of Helsinki, Helsinki</mods:affiliation><orgName type="university">Université d'Helsinki</orgName><country>Finlande</country><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></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 wicri:level="1"><mods:affiliation>Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Clinique Endocrinologique Nutrition et Diabète, Hôpital de l'Antiquaille Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Zini, Michele" sort="Zini, Michele" uniqKey="Zini M" first="Michele" last="Zini">Michele Zini</name><affiliation wicri:level="1"><mods:affiliation>Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Servizio di Endocrinologia, Arcispedale “S. Maria Nuova,” Reggio Emilia</wicri:regionArea></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><mods:affiliation>Division of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></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 wicri:level="3"><mods:affiliation>Service Central de Médecine Nucléaire, Hôpital Saint Louis, Paris</mods:affiliation><country>France</country><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName><wicri:orgArea>Service Central de Médecine Nucléaire, Hôpital Saint Louis</wicri:orgArea></affiliation></author><author><name sortKey="Bonichon, Francoise" sort="Bonichon, Francoise" uniqKey="Bonichon F" first="Françoise" last="Bonichon">Françoise Bonichon</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Bergonié Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Bergonié Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Cavarec, Marie" sort="Cavarec, Marie" uniqKey="Cavarec M" first="Marie" last="Cavarec">Marie Cavarec</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, CHU Morvan, Brest, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, CHU Morvan, Brest</wicri:regionArea></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 wicri:level="1"><mods:affiliation>Médecine Nucléaire, Centre Eugène Marquis, Rennes, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Médecine Nucléaire, Centre Eugène Marquis, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Boneu, Andree" sort="Boneu, Andree" uniqKey="Boneu A" first="Andrée" last="Boneu">Andrée Boneu</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Claudius Regaud, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="Leprat, Frederic" sort="Leprat, Frederic" uniqKey="Leprat F" first="Frédéric" last="Leprat">Frédéric Leprat</name><affiliation wicri:level="1"><mods:affiliation>Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Endocrinologie et Maladies Métaboliques, Hôpital du Haut-Levêque, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Haas, Oskar" sort="Haas, Oskar" uniqKey="Haas O" first="Oskar" last="Haas">Oskar Haas</name><affiliation><mods:affiliation>CCRI, St. Anna Children’s Hospital, Vienna; and</mods:affiliation><wicri:noCountry code="subField">and</wicri:noCountry></affiliation></author><author><name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name><affiliation wicri:level="1"><mods:affiliation>Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unite d'Oncologie Génétique, Centre Léon Bérard, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Schlumberger, Martin" sort="Schlumberger, Martin" uniqKey="Schlumberger M" first="Martin" last="Schlumberger">Martin Schlumberger</name><affiliation wicri:level="1"><mods:affiliation>Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Nucléaire, Institut Gustave Roussy, Villejuif</wicri:regionArea></affiliation></author><author><name sortKey="Canzian, Federico" sort="Canzian, Federico" uniqKey="Canzian F" first="Federico" last="Canzian">Federico Canzian</name><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></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 wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Romeo, Giovanni" sort="Romeo, Giovanni" uniqKey="Romeo G" first="Giovanni" last="Romeo">Giovanni Romeo</name><affiliation wicri:level="1"><mods:affiliation>E-mail: romeo@iarc.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="1"><mods:affiliation>International Agency for Research on Cancer, Lyon, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Research on Cancer, Lyon</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Human Genetics</title><title level="j" type="abbrev">AJHG</title><idno type="ISSN">0002-9297</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001">2001</date><biblScope unit="volume">69</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="440">440</biblScope><biblScope unit="page" to="446">446</biblScope></imprint><idno type="ISSN">0002-9297</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Accession number</term><term>Benign</term><term>Benign thyroid disease</term><term>Benign thyroid disorders</term><term>Canzian</term><term>Carcinoma</term><term>Cell oxyphilia</term><term>Chromosome</term><term>Clin endocrinol metab</term><term>Common form</term><term>Common haplotype</term><term>Comparative genomic hybridization</term><term>Critical region</term><term>Extensive genomewide scan</term><term>Familial</term><term>Familial form</term><term>Familial nonmedullary thyroid cancer</term><term>Fnmtc</term><term>Fnmtc pedigrees</term><term>Follicular</term><term>Follicular variant</term><term>Fvptc</term><term>Genet</term><term>Genetic distances</term><term>Genetic location database</term><term>Genetic maps</term><term>Goiter</term><term>Haplotype</term><term>Higher degree</term><term>Histological subtype</term><term>Hlod</term><term>International agency</term><term>International consortium</term><term>Large tasmanian family</term><term>Lesueur</term><term>Linkage</term><term>Linkage analysis</term><term>Locus</term><term>Medecine nucleaire</term><term>Medical genetics</term><term>Multinodular goiter</term><term>Neoplastic disease</term><term>Nmtc</term><term>Nmtc patients</term><term>Nmtc risk</term><term>Nonmedullary thyroid carcinoma</term><term>Nonparametric linkage analysis</term><term>Nucleaire</term><term>Papillary</term><term>Papillary thyroid carcinoma</term><term>Pax8 gene</term><term>Previous studies</term><term>Sporadic counterpart</term><term>Susceptibility</term><term>Susceptibility gene</term><term>Susceptibility locus</term><term>Tas1</term><term>Tas1 family</term><term>Tasmania</term><term>Tasmanian</term><term>Thyrocyte growth</term><term>Thyroid carcinoma</term><term>Unpublished data</term><term>Years years years</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Accession number</term><term>Benign</term><term>Benign thyroid disease</term><term>Benign thyroid disorders</term><term>Canzian</term><term>Carcinoma</term><term>Cell oxyphilia</term><term>Chromosome</term><term>Clin endocrinol metab</term><term>Common form</term><term>Common haplotype</term><term>Comparative genomic hybridization</term><term>Critical region</term><term>Extensive genomewide scan</term><term>Familial</term><term>Familial form</term><term>Familial nonmedullary thyroid cancer</term><term>Fnmtc</term><term>Fnmtc pedigrees</term><term>Follicular</term><term>Follicular variant</term><term>Fvptc</term><term>Genet</term><term>Genetic distances</term><term>Genetic location database</term><term>Genetic maps</term><term>Goiter</term><term>Haplotype</term><term>Higher degree</term><term>Histological subtype</term><term>Hlod</term><term>International agency</term><term>International consortium</term><term>Large tasmanian family</term><term>Lesueur</term><term>Linkage</term><term>Linkage analysis</term><term>Locus</term><term>Medecine nucleaire</term><term>Medical genetics</term><term>Multinodular goiter</term><term>Neoplastic disease</term><term>Nmtc</term><term>Nmtc patients</term><term>Nmtc risk</term><term>Nonmedullary thyroid carcinoma</term><term>Nonparametric linkage analysis</term><term>Nucleaire</term><term>Papillary</term><term>Papillary thyroid carcinoma</term><term>Pax8 gene</term><term>Previous studies</term><term>Sporadic counterpart</term><term>Susceptibility</term><term>Susceptibility gene</term><term>Susceptibility locus</term><term>Tas1</term><term>Tas1 family</term><term>Tasmania</term><term>Tasmanian</term><term>Thyrocyte growth</term><term>Thyroid carcinoma</term><term>Unpublished data</term><term>Years years years</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="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 (α=0.42), nonparametric linkage (NPL) 3.19, (P=.001) 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 (α=0.80) and NPL=4.99 (P=.00002) at markers AFMa272zg9 and D2S2271, respectively. These results indicate the existence of a susceptibility locus for familial NMTC on chromosome 2q21.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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