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

Am J Hum Genet. 1998 Dec;63(6):1743-8. doi: 10.1086/302164.


Familial nonmedullary thyroid cancer (FNMTC) is a clinical entity characterized by a phenotype more aggressive than that of its sporadic counterpart. Families with recurrence of nonmedullary thyroid cancer (NMTC) have been repeatedly reported in the literature, and epidemiological data show a very high relative risk for first-degree relatives of probands with thyroid cancer. 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 report both the identification of a new entity of FNMTC and the mapping of the responsible gene, named "TCO" (thyroid tumors with cell oxyphilia), in a French pedigree with multiple cases of multinodular goiter and NMTC. TCO was mapped to chromosome 19p13.2 by linkage analysis with a whole-genome panel of microsatellite markers. Interestingly, 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 with sporadic NMTC with cell oxyphilia should be carefully investigated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoma, Oxyphilic / genetics*
  • Adenoma, Oxyphilic / pathology
  • Adolescent
  • Adult
  • Carcinoma, Papillary / genetics*
  • Carcinoma, Papillary / pathology
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Genotype
  • Goiter, Nodular / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Pedigree
  • Penetrance
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology