Refining a potential genetic component of prostate cancer risk


A new paper by a multi-center research team has refined the long-held suspicion that some types of aggressive prostate cancer may be the consequence of the accumulation of multiple mutations in the patients’ DNA.

Back in 2005, members of this research team published early evidence that specific gene fusions may play an important role in the development of prostate cancer (see Tomlins et al.). Their work focused in particular on fusions between the TMPRSS2 gene and members of the ETS transcription factor family, most notably the ERG gene.

Now, according to a new report by Pflueger et al. in Genome Research and a media release from Weill Cornell Medical College, this group of researchers has been able to show that seven new cancer-specific gene fusions (resulting from secondary mutations) may cause some types of prostate cancer cells to have lethal potential. If this work can be confirmed, it is one further step along the important pathway to being able to distinguish clearly between forms of prostate cancer that are highly aggressive and those that are less aggressive and therefore less clinically significant.

The paper is highly technical, but basically Pflueger and her colleagues used sophisticated nucleic acid sequencing techniques to find these seven new gene fusions; they are all of relatively low frequency compared to the original TMPRSS2–ERG gene fusion (which is found in about half of all prostate cancer cases), but four of the seven new fusions were non-ETS gene fusions that all occurred in prostate cancers already expressing theTMPRSS2–ERG gene fusion.

Quoted in the media release from Weill Cornell Medical College, one of the team’s leaders, Dr. Mark Rubin, says, “In the future, these fusions, specific to certain types of prostate cancer, may help physicians prescribe tailored therapies for their patients. This is an important step toward providing specific therapies that target individual cancer variants, and our hope is these findings will help doctors diagnose a patient’s specific disease.”

Dr. Rubin’s prior research has focused on a better understanding of prostate cancer and finding a test that will distinguish clinically significant prostate cancer from indolent disease that does not require additional treatment. A new diagnostic test based on some of this research is already in development as a consequence of collaboration between this research team and commercial partners.

“The new test being developed will identify cells that are seen only in people with prostate cancer, allowing us to know with great certainty who has prostate cancer,” according to Dr. Rubin. “This will result in fewer unnecessary biopsies, which have potential side effects, including infections, bloody semen, and rectal bleeding.”

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