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Adding More SNPs to Breast Cancer Risk Models Doesn't Help

In the New England Journal of Medicine, researchers from the National Cancer Institute say breast cancer risk assessment models don't perform any better when they include common inherited genetic variants linked to the disease. The study's senior investigator, Sholom Wacholder, says the improvement in the risk models wasn't enough to matter to a majority of women. Wacholder and his team combined data from five studies, altogether including 5,590 breast cancer patients and 5,998 healthy women. Then they examined the predictive accuracy of the Gail model – using information on a woman's personal health and reproductive history to estimate the risk of developing breast cancer within the next 5 years, or over a lifetime – and tested the accuracy of a model using SNPs and found they each worked as well as the other. An inclusive model using both SNPs and Gail factors performed only slightly better than either model alone.

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.