CHEK2-mutation in Dutch breast cancer families: Expanding genetic testing for breast cancer

Muriel A. Adank*, Frederik J. Hes, Wendy A.G. Van Zelst-Stams, M. Petrousjka Van Den Tol, Caroline Seynaeve, Jan C. Oosterwijk

*Corresponding author for this work

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8 Citations (Scopus)


In the majority of breast cancer families, DNA testing does not show BRCA1 or BRCA2 mutations and the genetic cause of breast cancer remains unexplained. Routine testing for the CHEK2∗1100delC mutation has recently been introduced in breast cancer families in the Netherlands. The 1100delC mutation in the CHEK2gene may explain the occurrence of breast cancer in about 5% of nonBRCA1/ 2 families in the Netherlands. In the general population the CHEK2∗1100delC mutation confers a slightly increased breast cancer risk, but in a familial breast cancer setting this risk is between 3555% for first degree female carriers. Female breast cancer patients with the CHEK2∗1100delC mutation are at increased risk of contralateral breast cancer and may have a less favourable prognosis. Female heterozygous CHEK2∗1100delC mutation carriers are offered annual mammography and specialist breast surveillance between the ages of 3560 years. Prospective research in CHEK2positive families is essential in order to develop more specific treatment and screening strategies.

Translated title of the contributionCHEK2-mutation in Dutch breast cancer families: Expanding genetic testing for breast cancer
Original languageDutch
Article numbera8910
JournalNederlands Tijdschrift voor Geneeskunde
Issue number45
Publication statusPublished - 2015

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