New Genetic Mutation

Important new update related to breast cancer

You may have heard about a new study that discovered a genetic mutation called PALB2 which has been shown to raise the risk of breast cancer in women.   According to the study, PALB2 mutation carriers had a 35 percent chance of developing cancer by age 70.  (By comparison, women with BRCA1 mutations have a 50 percent to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 percent to 60 percent chance.)  The same study reported that breast cancer risk for women younger than 40 with the PALB2 mutation was eight to nine times higher than the general population.

What does this mean?

  • This is another tool for personalized risk assessment and will be helpful for some number of people carrying these mutations – these would be people that we would now watch more closely.
  • At this point we really can’t say with any certainty how many women will be affected by this.  More study is needed.  However, this is another important piece in the genetic puzzle of hereditary breast cancers.
  • From our understanding of the BRCA genes, we already know that 5-10 percent of breast cancers have a genetic component, but also have known that BRCA doesn’t account for all of them.
  • Researchers have been working to identify these other factors for some time — the PALB2 mutations described in this article shed further light on hereditary breast cancer and also the complexity of it, as it is likely that risk conferred by these mutations is modified by other genetic or environmental factors that cluster in families, much like is the case for BRCA.
  • Women and men with these mutations would be considered high risk, and so genetic testing for PALB2 may be justified in people with family history of breast cancer. For women who are carriers, different screening options may be warranted.
  • This is a very rare mutation and at this time there are no special screening or treatment recommendations for women found to have this mutation.
  • Women with a family history of breast cancer should talk to their healthcare provider about testing and screening options, mindful of a family history of breast or other cancers.

What is Komen’s connection to this study?

  • Research is by its nature a collaborative process that builds off of previous works.  Several of the researchers behind this study have received Komen funding over the years, including funding that contributed to this new study.
  • For example, Drs. King, Domchek and Foulkes, who co-authored the study, are Komen Scholars.
  • Drs. Domchek and Foulkes both cited in the acknowledgment section of the NEJM paper as having Komen funding that contributed to the paper.
  • Komen also funded Dr. Tischkowitz, the lead author, in 2008 for a Career Catalyst grant titled: PALB2 – A new hereditary cancer gene: implications for treatment. Though Tischkowitz does not list Komen as one of his funding sources, his Komen work is directly related to the body of evidence published in NEJM.