Abstract

The CpG island methylator phenotype (CIMP) represents a subset of colorectal cancers characterized by widespread DNA hypermethylation at select CpG islands, but risk factors for CIMP tumors are not known. Weisenberger and colleagues measured the CIMP status of 3,119 primary population–based colorectal cancer tumors from the multinational Colon Cancer Family Registry and found associations between tumor CIMP status and microsatellite instability, BRAF gene V600E mutation status, proximal tumor site, female sex, and age. NSAID use in males and females and BMI and smoking in females were also associated with CIMP status.To explore temporal DNA methylation changes within and between individuals, Shvetsov and colleagues analyzed DNA methylation at over 400,000 CpG-site–specific DNA methylation loci in leukocyte DNA from 24 healthy Chinese women over a nine-month period. The authors found that most CpG sites did not exhibit temporal trend that is sufficiently strong to be detected in a small time window of <1 year. This study supports that methylation levels can be reliably assessed with one blood sample.Germline mutations in the BRCA1 and BRCA2 genes confer a 58–80% lifetime risk of breast cancer. There are few data on the prevalence of BRCA1/2 mutations in Mexican women with breast cancer. Torres-Mejía and colleagues screened 810 unselected women with breast cancer from three cities in Mexico for mutations in BRCA1 and BRCA2. Thirty-five mutations were identified in 34 women, 20 BRCA1 mutations and 15 BRCA2 mutations. Only five of the 34 mutation carriers had a first-degree relative with breast cancer. These results support a strategy of screening all women with breast cancer in Mexico for BRCA1/2 mutations.Patient navigation can boost colorectal cancer screening in primary care. To explore this, Ritvo and colleagues tested the impact of a patient navigation intervention that included support for performance of the participants' preferred screening test (colonoscopy or stool blood testing). Primary care patients were randomly assigned to an intervention group or a usual care control group, and the intervention group participants were contacted by and met with a navigator who helped them identify and arrange for the preferred screening. Screening adherence was higher in the intervention group, compared to the control group.

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