Women with DCIS may develop invasive breast cancer in the same breast despite treatment. To study whether DCIS is the true precursor of all subsequent ipsilateral invasive breast cancer, PRECISION scientists compared the genetic changes in women with an initial DCIS and a subsequent invasive breast cancer. The team pooled together large patient series with long term follow up data from UK, US and Dutch cohorts. While smaller studies have been done before, this is the first ever report of robust, in-depth genomic investigation based on a combination of whole exome sequencing, targeted sequencing, copy number analysis and single cell sequencing (SCS) on a large number of patient series. By assessing the rate of genetic aberrations it was determined that 80% of subsequent invasive cancers were genetically related to the initial DCIS, while 20% turned out to be genetically unrelated and independent primary events. These results challenge the current dogma that almost all subsequent ipsilateral IBC are due to progression of the initial DCIS. In addition to being a precursor lesion, DCIS could also be a risk lesion for invasive breast cancer later on in life. This means that for future clinical management one should consider the combined risk: DCIS could be a precursor lesion and could also be a risk lesion for a subsequent breast event. The team is hopeful that in the near future such molecular findings combined with other inherited (germline) and lifestyle factors will help assess personalized risk of developing invasive breast cancer for patients diagnosed with DCIS and administer appropriate treatment options for each individual.

Check out the latest publication from team PRECISION published today in Nature Genetics.


The patient advocate team from PRECISION have prepared plain language summary (PLS) of our new publication.

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