A gene predisposing to familial thyroid tumors with cell oxyphilia maps tochromosome 19p13.2

Citation
F. Canzian et al., A gene predisposing to familial thyroid tumors with cell oxyphilia maps tochromosome 19p13.2, AM J HU GEN, 63(6), 1998, pp. 1743-1748
Citations number
25
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
63
Issue
6
Year of publication
1998
Pages
1743 - 1748
Database
ISI
SICI code
0002-9297(199812)63:6<1743:AGPTFT>2.0.ZU;2-4
Abstract
Familial nonmedullary thyroid cancer (FNMTC) is a clinical entity character ized by a phenotype more aggressive than that of its sporadic counterpart. Families with recurrence of nonmedullary thyroid cancer (NMTC) have been re peatedly reported in the literature, and epidemiological data show a very h igh relative risk for first-degree relatives of probands with thyroid cance r. The transmission of susceptibility to FNMTC is compatible with autosomal dominant inheritance with reduced penetrance, or with complex inheritance. Cases of benign thyroid disease are often found in FNMTC kindreds. We repo rt both the identification of a new entity of FNMTC and the mapping of the responsible gene, named "TCO" ((t) under bar hyroid tumors with (c) under b ar ell (o) under bar xypihilia), in a French pedigree with multiple cases o f multinodular goiter and NMTC. TCO was mapped to chromosome 19p13.2 by lin kage analysis with a whole-genome panel of microsatellite markers. Interest ingly, both the benign and malignant thyroid tumors in this family exhibit some extent of cell oxyphilia, which, until now, had not been described in the FNMTC. These findings suggest that the relatives of patients affected w ith sporadic NMTC with cell oxyphilia should be carefully investigated.