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Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21


McKay, JD and Lesueur, F and Jonard, L and Pastore, A and Williamson, J and Hoffman, L and Burgess, J and Duffield, A and Papotti, M and Stark, M and Sobol, H and Maes, B and Murat, A and Kaariainen, H and Bertholon-Gregoire, M and Zini, M and Rossing, MA and Toubert, ME and Bonichon, F and Cavarec, M and Bernard, AM and Boneu, A and Leprat, F and Haas, O and Lasset, C and Schlumberger, M and Canzian, F and Goldgar, DE and Romeo, G, Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21, American Journal of Human Genetics, 69, (2) pp. 440-446. ISSN 0002-9297 (2001) [Refereed Article]

DOI: doi:10.1086/321979


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Oncology and carcinogenesis
Research Field:Oncology and carcinogenesis not elsewhere classified
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hoffman, L (Associate Professor Linda Hoffman)
UTAS Author:Burgess, J (Professor John Burgess)
UTAS Author:Duffield, A (Dr Anne Duffield)
ID Code:21790
Year Published:2001
Web of Science® Times Cited:143
Deposited By:Medicine
Deposited On:2001-08-01
Last Modified:2014-10-21

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