New research has shown that inactivating germline alterations in SMAD3 and SMAD4 are rare, suggesting a limited role in driving tumorigenesis.
Scientists from the Ontario site of the breast cancer family registry used denaturing
high performance liquid chromatography and direct sequencing in their study.
The researchers performed mutation analysis of the highly-conserved mad homology 2 (MH2) domains for both genes in genomic DNA from 408 non-BRCA1/BRCA2 breast cancer cases and 710 population controls.
A total of 27 variants, including two novel SMAD4 coding variants, were identified, though there were no inactivating mutations despite a prediction that exonic splicing enhancers would be affected by certain variants.
The scientists concluded that inactivating germline alterations in SMAD3 and SMAD4 are rare.
"Nevertheless, aberrant germline expressions of SMAD3 and SMAD4 may be more common in breast cancer than previously suspected," they noted.
Earlier this month, high performance liquid chromatography was used in a study investigating the efficiency of mosquito nets.
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