Germ-line Mutation Associated with Multi-Nodular Goiter and Papillary Thyroid Cancer
A germ-line mutation in the gene that encodes thyroid transcription factor-1 (TTF-1) may be associated with multi-nodular goiter (MNG) and with progression to papillary thyroid cancer (PTC).
It is known that some patients who have MNG progress to PTC, but a genetic link between the two diseases was not known. TTF-1 is known to be involved in thyroid development and is expressed at a lower level in malignant thyroid tissue than normal tissue.
In the current study, Elly S. W. Ngan, Ph.D., of the University of Hong Kong, and colleagues examined the gene that encodes TTF-1, called TITF-1/NKX2.1, in three groups of people: 20 individuals with MNG that progressed to PTC; 284 PTC patients with no history of MNG; and 349 healthy individuals.
Four of the 20 MNG/PTC patients carried a single point mutation in the TITF-1/NKX2.1 gene, including two individuals with a family history of MNG. Introduction of the mutant gene into cells grown in vitro increased their proliferation rate and increased expression of genes associated with cancer cell growth.
"Our findings may be relevant to the search for molecular markers to assess risk for MNG/PTC, through regular screening of relatives of PTC patients affected with MNG," the authors conclude.
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Early Mammograms May Have Net Harm in Some BRCA Mutation Carriers
The risk of radiation-induced breast cancer may outweigh the benefits of mammography in women under the age of 30 who carry a mutation in BRCA1 or BRCA2, according to a mathematical modeling study.
The general recommendation for women who carry a mutation in BRCA1/2 is to start getting annual mammograms as early as 25 to 30 years of age. However, it is not clear whether the risk of ra
|Contact: Caroline McNeil|
Journal of the National Cancer Institute