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Genetic link to breast cancer prognosis found
Heterozygosity in the CHEK2*1100delC gene increased mortality risk by 40% in ER-positive breast cancer, according to study results.
Maren Weischer, BMSc, of the University of Copenhagen in Denmark, and colleagues conducted the study to determine whether CHEK2*1100delC heterozygosity is associated with poor outcomes in breast cancer. Outcomes included early death, breast cancer-specific death and risk of a second breast cancer in women with a first breast cancer. The investigators examined early death and breast cancer-specific death by ER status, as well as risk of a second breast cancer after a first breast cancer.
The analysis included 25,571 white women with invasive breast cancer from 22 prospective studies from the Breast Cancer Association Consortium.
The researchers genotyped eligible participants for CHEK2*1100delC and observed them for up to 20 years (median, 6.6 years).
The researchers observed CHEK2*1100delC heterozygosity in 1.8% of the study population. The HR for early death among heterozygotes with ER-positive breast cancer as compared with noncarriers was 1.43 (95% CI, 1.12-1.82). The HR for breast cancer-specific death among heterozygotes compared with noncarriers was 1.63 (95% CI, 1.24-2.15).
The overall HR for a second breast cancer was 2.77 (95% CI, 2.00-3.83). This risk increased to 3.52 (95% CI, 2.35-5.27) when only women with ER-positive first breast cancer were included.
“This is one of the few examples of a genetic factor that influences long-term prognosis being documented in an extensive series of women with breast cancer,” Weischer and colleagues concluded.
Disclosure: See the study for a full list of financial disclosures.