Thanks to these advances, a study led by researchers from the research group of Genes and Cancer at the Epigenetics and Biology Program Cancer Biomedical Research of Bellvitge Biomedical Research Institute (IDIBELL) identified for the first time in primary tumour tissue from lung cancer patients the SMARCA4 mutation. Normally, this gene, also known as BRG1, can produce a protein that slows the development of lung cancer. Previous studies performed by the same researchers at IDIBELL detected this mutation in cell cultures in vitro. The study, led by Montse Sanchez-Cespedes, was just published online at Human Mutation journal.
The researchers used a new technique for mass screening to detect mutations more accurately. While the traditional technique requires that at least 10% of the sample contains altered cells, the news system is able to detect mutations that can be found in 2% of the sample.
Mutation in the gene SMARCA4 is the fourth most common cancer in non-small cell lung cancer, accounting for 80% of lung cancers.
The first author of the research, Salvador Rodriguez-Nieto, stresses that identification of this gene in tumour samples from patients is important to develop new drugs in the future: “restoration of altered gene function reverses the tumour process, which could be a promising therapeutic target.”
The lung cancer is one of the most common cancers in the world. It is the leading cause of cancer death in developed countries. The survival rate of affected people remains very low because it is difficult to detect before spreading to other body organs. Nine out of ten lung cancers are caused by smoking.
Although lung cancer is one of the most studied at genetic level, there is still a long way to identify all the genes involved in the onset and progression of the disease.
The investigation has involved the collaboration of researchers from the National Cancer Research Centre in Madrid (CNIO), Hospital Virgen de la Arrixaca in Murcia, Madrid Sanchinarro University Hospital and National Bioinformatics Institute in Madrid. It has received funding from the Spanish Ministry of Education and Science and the Spanish Association Against Cancer (AECC).
Article reference
Rodriguez-Nieto S*, Cañada A, Pros E*, Pinto AI*, Torres-Lanzas J, Lopez-Rios F, Sanchez-Verde L, Pisano DG, Sanchez-Cespedes M. Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors. Hum Mutat. 2010 Dec 7. [Epub ahead of print].
* IDIBELL researchers