Genetics of cancer

Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes. It focuses on genomic, epigenomic and transcript alterations in cancer.

Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.

Besides understanding the underlying genetic mechanisms that initiate or drive cancer progression, oncogenomics targets personalized cancer treatment. Cancer develops due to DNA mutations and epigenetic alterations that accumulate randomly. Identifying and targeting the mutations in an individual patient may lead to increased treatment efficacy.

The completion of the Human Genome Project facilitated the field of oncogenomics and increased the abilities of researchers to find oncogenes. Sequencing technologies and global methylation profiling techniques have been applied to the study of oncogenomics.

The genomics era began in the 1990s, with the generation of DNA sequences of many organisms. In the 21st century, the completion of the Human Genome Project enabled the study of functional genomics and examining tumor genomes. Cancer is a main focus.

The epigenomics era largely began more recently, about 2000. One major source of epigenetic change is altered methylation of CpG islands at the promoter region of genes (see DNA methylation in cancer). A number of recently devised methods can assess the DNA methylation status in cancers versus normal tissues. Some methods assess methylation of CpGs located in different classes of loci, including CpG islands, shores, and shelves as well as promoters, gene bodies, and intergenic regions. Cancer is also a major focus of epigenetic studies.

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