The Research Of Breast Cancer Genome Through NGS Data And Its Application Prospect

Background:Breast cancer is one of the most common cancer worldwide and the most common in Chinese women. The health burden of the breast cancer is increasing fast. With the development of high-throughout sequencing technology, the knowledge and diagnosis and treat level of breast cancer has improved much. And the genetic screening technology has give us a better understanding of our own genome and cancer risk.Results:Here we mainly analysed 510 breast cancer patients’ mutation data, and 773 breast cancer patients’copy number variation data from TCGA. Take the significant mutated genes analysis by mutsigCV and find 9 SMGs like GATA3, MAP2K4, PTEN, RUNX1, CTCF, TBX3, AKT1. And the mutational signature analysis by NMF, KEGG significant mutated pathway analysis,found out huge differences between patients with or without TP53/PIK3CA mutations. Then take the significant copy number variations analysis by GIST1C, found 31 significant AMP regions and 51 significant DEL regions and important gene in these regions like CCND1, ERBB2, PIK3CA, RBI, CSMD1, CDKN2A, PTEN. So as to take a further insights into the mutational signatures of the genome of breast cancer, hope to have new findings and offer some help of the development of breast cancer genome research.Conclusions:Genes like GATA3, MAP2K4, PTEN and some other new genes play very important roles in breast cancer patients who didn’t have the TP53/PIK3CA mutations. And the mutational pathways and signatures are different from those patients who have the TP53/PIK3CA mutations. Witch reveals that there are huge heterogeneity between these breasts cancer patients. At the same time, we also found many genes have significant AMP or DEL in breast cancer, some of them had few report before.