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Not in the Know

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A recent study in the journal Cancer found that while women with an average risk of developing breast cancer are getting the recommended advice about their cancer susceptibility, less than half of women at high risk for breast cancer are getting the information they need, reports Medscape Medical News' Jim Kling. Physicians informed 71 percent of women at average risk about their possible BRCA1 and BRCA2 mutations, but only informed 41 percent of women at high risk, the study found. The researchers conducted a survey of 3,200 family physicians, general internists, and OB-GYNs, 62 percent of whom responded, Kling says. One problem, the authors found, is that high-risk women may not be correctly identified. "Correct identification of high-risk women was a strong predictor of counseling and testing referral," Kling says. "Physicians who identified high-risk women were 8.46 times more likely to make a referral than physicians who misidentified high-risk women as average risk." The authors of the study write that efforts are needed to encourage doctors to recommend appropriate counseling and testing for high-risk women, while simultaneous efforts are needed to discourage such testing and counseling for average-risk women.

The Scan

LINE-1 Linked to Premature Aging Conditions

Researchers report in Science Translational Medicine that the accumulation of LINE-1 RNA contributes to premature aging conditions and that symptoms can be improved by targeting them.

Team Presents Cattle Genotype-Tissue Expression Atlas

Using RNA sequences representing thousands of cattle samples, researchers looked at relationships between cattle genotype and tissue expression in Nature Genetics.

Researchers Map Recombination in Khoe-San Population

With whole-genome sequences for dozens of individuals from the Nama population, researchers saw in Genome Biology fine-scale recombination patterns that clustered outside of other populations.

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.