دورية أكاديمية
أعرض في EDS

Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21.

التفاصيل البيبلوغرافية
العنوان: Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21.
المؤلفون: McKay JD; International Agency for Research on Cancer, 69372 Lyon, cedex 08, France., Lesueur F, Jonard L, Pastore A, Williamson J, Hoffman L, Burgess J, Duffield A, Papotti M, Stark M, Sobol H, Maes B, Murat A, Kääriäinen H, Bertholon-Grégoire M, Zini M, Rossing MA, Toubert ME, Bonichon F, Cavarec M, Bernard AM, Boneu A, Leprat F, Haas O, Lasset C, Schlumberger M, Canzian F, Goldgar DE, Romeo G
المصدر: American journal of human genetics [Am J Hum Genet] 2001 Aug; Vol. 69 (2), pp. 440-6. Date of Electronic Publication: 2001 Jul 02.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
مواضيع طبية MeSH: Chromosome Mapping* , Nuclear Proteins*, Carcinoma, Papillary/*genetics , Chromosomes, Human, Pair 2/*genetics , Genetic Predisposition to Disease/*genetics , Thyroid Neoplasms/*genetics, Carcinoma, Papillary/epidemiology ; DNA-Binding Proteins/genetics ; Female ; Genetic Heterogeneity ; Goiter/epidemiology ; Goiter/genetics ; Haplotypes/genetics ; Humans ; Lod Score ; Male ; Models, Genetic ; Molecular Sequence Data ; PAX8 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Phenotype ; Prevalence ; Statistics, Nonparametric ; Tasmania/epidemiology ; Thyroid Neoplasms/epidemiology ; Trans-Activators/genetics
مستخلص: 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 (alpha=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 (alpha=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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سلسلة جزيئية: OMIM 138800; 188550; 603386; 605642
المشرفين على المادة: 0 (DNA-Binding Proteins)
0 (Nuclear Proteins)
0 (PAX8 Transcription Factor)
0 (PAX8 protein, human)
0 (Paired Box Transcription Factors)
0 (Trans-Activators)
تواريخ الأحداث: Date Created: 20010705 Date Completed: 20010816 Latest Revision: 20200824
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC1235316
DOI: 10.1086/321979
PMID: 11438887
قاعدة البيانات: MEDLINE
الوصف
تدمد:0002-9297
DOI:10.1086/321979