University Of Tasmania

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

journal contribution
posted on 2023-05-16, 12:50 authored by McKay, JD, Lesueur, F, Jonard, L, Pastore, A, Williamson, J, Hoffman, L, John BurgessJohn Burgess, Duffield, A, Papotti, M, Stark, M, Sobol, H, Maes, B, Murat, A, Kaariainen, H, Bertholon-Gregoire, 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
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.


Publication title

American Journal of Human Genetics








Tasmanian School of Medicine


University Chicago Press

Place of publication

Chicago, USA

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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