[CHEK2-mutation in Dutch breast cancer families: expanding genetic testing for breast cancer].
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 CHEK2-gene may explain the occurrence of breast cancer in about 5% of non-BRCA1/2 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 35-55% 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 35-60 years. Prospective research in CHEK2-positive families is essential in order to develop more specific treatment and screening strategies.
Vrije Universiteit Medisch Centrum, Amsterdam.
Muriel A
MA
Adank
Frederik J
FJ
Hes
Wendy A G
WA
van Zelst-Stams
M Petrousjka
MP
van den Tol
Caroline
C
Seynaeve
Jan C
JC
Oosterwijk
D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D064447:Checkpoint Kinase 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008327:Mammography; D009154:Mutation; D009426:Netherlands; D011379:Prognosis; D012307:Risk Factors; D017384:Sequence Deletion
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human