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Biotech Firms Find Genetic Drivers for Uterine Cancers

DNA illustration


19 September 2014. Researchers with the companies Personal Genome Diagnostics and Blueprint Medicines identified genetic mutations associated with carcinosarcoma, a rare but deadly form of cancer affecting the female reproductive system also known as malignant mixed Mullerian tumors. The team that includes members from Johns Hopkins University and Oregon Health and Science University published its findings in today’s issue of the journal Nature Communications (paid subscription required).

Carcinosarcoma is an aggressive cancer made up of two forms of the disease, one affecting glandular cells and the other affecting soft tissue such as muscle or connective tissue. Tumors from carcinosarcoma generally appear in the uterus , but also in supporting organs and tissue. While carcinosarcoma accounts for 3 to 4 percent of uterine cancers, it has a higher mortality rate.

Personal Genome Diagnostics in Baltimore is a company founded by two of the paper’s authors, Victor Velculescu and Luis Diaz, both on the faculty of Johns Hopkins University’s medical school. The company conducts genomic sequencing of tumors and bioinformatics analyses to provide physicians with useful guidance to prescribe treatments for their patients.

Blueprint Medicines in Cambridge, Massachusetts develops cancer therapies that aim to limit the actions of kinases, enzymes supporting cancer growth resulting from genomic mutations. The company’s technology is designed to generate treatments for patients that address their precise genomic alterations. Christoph Lengauer, Blueprint’s chief scientist, was one of the paper’s senior authors, with Velculescu of Johns Hopkins and Personal Genome Diagnostics.

The research team analyzed the exomes of carcinosarcoma from 22 tumors with parallel high-throughput sequencing techniques to reveal the mutations in those tumors. The exome represents less than 2 percent of a whole genome, but accounts for about 85 percent genetic variations known to cause disease.

The findings revealed on average 43 mutations per tumor. In nearly two-thirds of the cases, the mutations affect genes regulating the chromosome structure and unpacking of the DNA to allow for transcription signals to reach their destinations, a process known as chromatin remodeling. About three-quarters of genetic alterations uncovered, say the authors, have potential as therapy targets, and in some cases were not previously associated with carcinosarcoma.

Personal Genome Diagnostics and Blueprint Medicines are already collaborating on identification of targets for Blueprint’s kinase inhibitor cancer treatments. Blueprint anticipates having 2 or 3 therapies in clinical testing by the end of 2015.

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