Danish Study Shows Increased Risk for Cancers in Addition to Breast Cancer in CHEK2 Mutation Heterozygotes
In a study reported in the Journal of Clinical Oncology, Näslund-Koch et al found an increased risk for cancers in addition to breast cancer in individuals heterozygous for the CHEK2*1100delC germline mutation associated with an increased breast cancer risk. CHEK2 is a cell-cycle checkpoint regulator.
Study Details
The study involved data from 86,975 individuals in the Copenhagen General Population Study recruited between 2003 and 2010. Among these individuals, 2,442 developed breast cancer, and 6,635 developed other cancers. A total of 670 (0.8%) were heterozygous for CHEK2*1100delC.
Increased Risk
After adjustment for age and sex, the hazard ratio for heterozygotes vs noncarriers was 2.08 (95% confidence interval [CI] = 1.51–2.85) for breast cancer and 1.45 (95% CI = 1.15–1.82) for other cancers. Age-adjusted hazard ratios for other cancers were 1.54 (95% CI = 1.08–2.18) among women and 1.37 (95% CI = 1.01–1.85) among men (P = .63 for sex comparison). The overall age- and sex-adjusted hazard ratios were 5.76 (95% CI = 2.12–15.6) for stomach cancer, 3.61 (95% CI = 1.33–9.79) for kidney cancer, 3.45 (95% CI = 1.09–10.9) for sarcoma, and 1.60 (95% CI = 1.00–2.56) for prostate cancer.
The investigators concluded: “CHEK2*1100delC heterozygosity is associated with 15% to 82% increased risk for at least some cancers in addition to breast cancer. This information may be useful in clinical counseling of patients with this loss-of-function mutation.”
Capital Region of Denmark and Copenhagen University Hospital funded the study. The authors reported no potential conflicts of interest.
Stig E. Bojesen, MD, PhD, DMSc, of the Copenhagen University Hospital, Herlev, Denmark, is the corresponding author of the Journal of Clinical Oncology article.
The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.
