New gene markers may lead to better cancer tests

You may have heard recently of an important and impressive study focused on the genetics of cancer, which has been heralded in the media as opening the way to reliable and cheap screening tests for cancers in the very near future.

The Collaborative Oncological Gene-environment Study (COGS)1 is the study in question - an international study involving hundreds of researchers. COGS examined the genetic markers of over 200,000 people in order to detect genetic variants associated with increased risk of three types of cancer:

  • Breast cancer
  • Ovarian cancer
  • Prostate cancer.

Research in the past has identified specific genetic mutations that can heighten the risk of breast cancer - most notably the mutations known as BRCA1 and BRCA2. This latest research found more than 70 new mutations located at specific points on the DNA molecule and which appear to be associated with an increased risk of these three cancers - including 41 mutations associated specifically with breast cancer.

While this research could potentially lead to more accurate cancer screening, using relatively cheap and simple DNA testing based on blood and saliva samples, claims that these tests may be only a few years away could be overhasty.

The study is nonetheless both significant and interesting. It has the capacity to lead to improvements in genetic profiling that may help to more accurately identify men and women at an increased risk of these three major cancers.


1. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature Genetics. Published online March 27 2013.


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