On your mind

The use of mammography screening has significantly increased the frequency of diagnosis of ductal carcinoma in situ (DCIS). This type of breast cancer has a relatively good overall prognosis, whereby the local recurrence rate after breast-conserving treatment is <10%. However, previous studies indicated that women diagnosed with DCIS perceive their prognosis to be significantly poorer. Because such perceptions can inform treatment decision making, Partridge et al. undertook a longitudinal study of risk perceptions among 374 women in Eastern Massachussetts who had been diagnosed with DCIS within 6 months of enrolling in the study.

They found that quality of life was good overall and comparable among the cohort and that perceived anxiety at diagnosis was high but decreased over the 18 months of the trial. When asked about their perception of the likely course of disease over the following 5 years, 54% of the women perceived at least a moderate risk for DCIS recurrence and 39% perceived at least a moderate risk for invasive cancer. Furthermore, 28% perceived at least a moderate risk of DCIS spreading to other sites within the body — this actually occurs in <1% of patients diagnosed with DCIS — indicating that perception after diagnosis of DCIS is significantly inaccurate. In addition, the authors found that perceived anxiety levels were consistently and strongly associated with overestimation of breast cancer risks for the future, pointing to the need for better information to be transferred to patients to try to reduce over-treatment.

Repairin' the brain

Meningioma is a type of brain tumour that is known to exhibit some familial association, indicating that there might be genetic predisposition. In addition, exposure to ionizing radiation is also associated with an increased risk of developing meningioma, indicating that variations in DNA repair genes might contribute to the development of this disease.

To address this, Bethke and colleagues analysed 1,127 common single-nucleotide polymorphisms (SNPs) and 388 putative functional SNPs of 136 DNA repair genes using data from five case–control studies (that is, 631 case patients and 637 controls) from four European countries. They found that the SNP rs4968451, which maps to intron 4 of BRIP1 (BRCA1-interacting protein C-terminal helicase 1), was significantly associated with a risk of developing meningioma across the five studies (trend odds ratio 1.57, 95% confidence interval 1.28–1.93). In addition, they reported that 28% of Europeans are carriers of the at-risk genotypes for rs4968451 and this SNP is likely to make a large contribution to the development of meningioma.