Thyroid Cancer

Study findings from University of Sao Paulo provide new insights into gene therapy

Thyroid Cancer Library Library Home This article was published in Clinical Oncology Week, which you can subscribe to online.

"We evaluate whether single SNPs within RET oncogene or haplotype comprising the RET variants (defined by Haploview) could predispose to early development of MTC in this family and influence the clinical manifestation. Eight SNPs were selected based on their previous association with the clinical course of hereditary or sporadic MTC, in particular promoting an early onset of disease. The variants were initially tested in 77 G533C-carriers and 100 controls using either PCR-direct sequencing or PCR-RFLP. Association between a SNP or haplotype and age at diagnosis or presence of lymph node metastasis was tested in 34 G533C-carries with MTC. Different bioinformatic tools were used to evaluate the potential effects on RNA splicing. An association was found between IVS1-126G > T and age at diagnosis. The variant [IVS8 +82A > G; 85-86 insC] was associated with the presence of lymph node metastases at diagnosis. In silico analysis suggested that this variant may induce abnormal splicing. This in silico analysis predicted that the [IVS8 +82A > G; 85-86 insC] could alter the splicing by disrupting and/or creating exonic splicing enhancer motifs," wrote R. Tamanaha and colleagues, University of Sao Paulo.

The researchers concluded: "We here identified two RET variants that were associated with phenotype variability in G533C-carriers, which highlights the fact that the modifier effect of a variant might depend on the type of mutation."

Tamanaha and colleagues published their study in Clinical Endocrinology (Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. Clinical Endocrinology, 2009;71(1):56-64).

For additional information, contact J.M. Cerutti, Federal University of Sao Paulo, Genetics Bases Thyroid Tumors Laboratory, Division Genetics, Rua Pedro Toledo 669, 11 Andar, BR-04039032 Sao Paulo, Brazil.

Publisher contact information for the journal Clinical Endocrinology is: Wiley-Blackwell Publishing, Inc., Commerce Place, 350 Main St., Malden 02148, MA, USA.

Keywords: Brazil, Sao Paulo, Biotechnology, Clinical Endocrinology, Endocrinology, Gene Therapy, Medullary Thyroid Carcinoma, Oncology, Thyroid Cancer, Thyroid Carcinoma, University of Sao Paulo.

This article was prepared by Clinical Oncology Week editors from staff and other reports. Copyright 2009, Clinical Oncology Week via NewsRx.com.