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Risk prediction, screening and therapy of breast cancer in women from CHEK2 c.1100delC families in the Netherlands

Project summary

Previous studies have shown that a CHEK2 mutation increases the chance of developing breast cancer. The outlook for breast cancer patients with this mutation is worse than for patients without the mutation. Moreover, there is a greater chance that breast cancer will also occur in the other breast. The CHEK2 mutation is relatively common in the Dutch population (1%) and is increased in families with a hereditary burden (5%). For this reason, a screening program for the CHEK2 mutation has recently been implemented in the Netherlands (September 2014). Since then, an increasing number of women have been found carrying the mutation.
The purpose of this project is to create screening guidelines that are tailored to the individual. For example, when it comes to the age at which screening is started: too early can be experienced as a burden, too late screening can stand in the way of successful treatment. To be able to give optimal individual advice about the screening (and tailor-made treatment if required), more information is quickly needed about the genetic basis and the consequences of the CHEK2 mutation.


Thanks to this research, carriers of the CHEK2 mutation, can expect customized screening and treatment.

More detailed information

Principal Investigator:

Dr. Maartje Hooning

Role Erasmus MC:



Project website:

Funding Agency:

Pink Ribbon