Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients
Menée sur des échantillons de tissus tumoraux et de tissus sains prélevés sur 14 patients chinois atteints d'un carcinome du poumon non à petites cellules, cette étude identifie la présence fréquente de mutations du gène MXRA5, un gène impliqué dans le remodelage de la matrice extracellulaire
Lung cancer has become the top killer among malignant tumors in China and is significantly associated with somatic genetic alterations. We performed exome sequencing of 14 non-small cell lung carcinomas (NSCLC) with matched adjacent normal lung tissues extracted from Chinese patients. In addition to the lung cancer related genes (TP53, EGFR, KRAS, PIK3CA and ROS1), this study revealed ‘novel’ genes not previously implicated in NSCLC. Especially, MXRA5 (matrix-remodeling associated 5) was the second most frequently mutated gene in NSCLC (first is TP53). Subsequent Sanger sequencing of MXRA5 in an additional sample set consisting of 52 paired tumor-normal DNA samples revealed that 15% of Chinese NSCLCs contained somatic mutations in MXRA5. These findings, together with the results from pathway analysis, strongly indicate that altered extracellular matrix remodeling may be involved in the etiology of NSCLC.
http://carcin.oxfordjournals.org/content/early/2012/06/13/carcin.bgs210.abstract