CHEK2-mutatie in Nederlandse borstkankerfamilies: Uit breiding van de genetische di agn ostiek op borstk anker

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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

8 Citaten (Scopus)

Samenvatting

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.

Vertaalde titel van de bijdrageCHEK2-mutation in Dutch breast cancer families: Expanding genetic testing for breast cancer
Originele taal-2Dutch
Artikelnummera8910
TijdschriftNederlands Tijdschrift voor Geneeskunde
Volume159
Nummer van het tijdschrift45
StatusPublished - 2015

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