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This Week in the Medical Journals: Aug 3, 2012


In JAMA this week, researchers from the US and The Netherlands report on the prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal tumors. The team conducted a cross-sectional study of 8,676 people who had undergone full gene sequencing, including large rearrangement analysis of their APC gene and targeted sequence analysis for two common MUTYH mutations. More than 7,000 of these individuals reported colorectal adenomas. Of those, researchers found 80 percent prevalence of pathogenic APC mutations and 2 percent prevalence of biallelic MUTYH mutations in patients who reported 1,000 adenomas or more; 56 percent and 7 percent, respectively, in patients with 100 to 999 adenomas; 10 percent and 7 percent, respectively, in patients with 20 to 99 adenomas; and 5 percent and 4 percent, respectively, in patients with 10 to 19 adenomas. "Among patients with multiple colorectal adenomas, pathogenic APC and MUTYH mutation prevalence varied considerably by adenoma count, including within those with a classic polyposis phenotype," the authors write. "APC mutations predominated in patients with classic polyposis, whereas prevalence of APC and MUTYH mutations was similar in attenuated polyposis. These findings require external validation."

In NEJM this week, researchers in the US and Canada report on the efficacy of combining anastrozole and fulvestrant to treat metastatic breast cancer. The team recruited postmenopausal women with previously untreated metastatic disease and randomly assigned them to receive either anastrozole or anastrozole and fulvestrant in combination. Median progression-free survival was 13.5 months in the anastrozole group, compared to 15 months in the combination group, the team says. The patients taking the combination therapy also had better overall survival. "The combination of anastrozole and fulvestrant was superior to anastrozole alone or sequential anastrozole and fulvestrant for the treatment of HR-positive metastatic breast cancer, despite the use of a dose of fulvestrant that was below the current standard," the team adds.

And in the British Medical Journal this week, researchers in France and Italy present their meta-analysis of studies of cutaneous melanoma attributable to the use of tanning beds. Based on these studies, the team says, tanning bed use increases the risk of melanoma, and dose response calculations also showed an 1.8 percent increase in risk for each additional tanning bed session per year. "Sunbed use is associated with a significant increase in risk of melanoma," the authors write. "This risk increases with number of sunbed sessions and with initial usage at a young age (

The Scan

Study Finds Sorghum Genetic Loci Influencing Composition, Function of Human Gut Microbes

Focusing on microbes found in the human gut microbiome, researchers in Nature Communications identified 10 sorghum loci that appear to influence the microbial taxa or microbial metabolite features.

Treatment Costs May Not Coincide With R&D Investment, Study Suggests

Researchers in JAMA Network Open did not find an association between ultimate treatment costs and investments in a drug when they analyzed available data on 60 approved drugs.

Sleep-Related Variants Show Low Penetrance in Large Population Analysis

A limited number of variants had documented sleep effects in an investigation in PLOS Genetics of 10 genes with reported sleep ties in nearly 192,000 participants in four population studies.

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.