Breast Cancer GWAS Highlights Loci With Possible Prognostic Ties in Young Women

NEW YORK (GenomeWeb) – The presence or absence of germline variants in and around the ADAMTSL1 gene may provide prognostic clues in early-onset breast cancer cases, according to an international team’s new study published in Nature Communications today.

The researchers took a meta-analysis genome-wide association approach to finding germline variants with potential ties to overall survival and/or disease-free survival in more than 6,000 individuals with breast cancer. In women diagnosed with breast cancer when they were 40 years old or younger, the team narrowed in on germline ADAMTSL1 SNPs associated with disease-free survival independent of previously described prognostic variants.

Two more loci also showed ties to survival across all of the cases, though none of the loci reached genome-wide significant association with outcomes.

“The SNPs identified in this study have the potential to improve the accuracy of prognostic estimates and stratification of patients into treatment groups,” corresponding and co-senior author William Tapper, a genetic epidemiology and bioinformatics researcher at the University of Southampton, and his colleagues wrote. “Moreover, the gene implicated by these SNPs may warrant further investigation as novel therapeutic targets and some are already under investigation for this purpose.”

While tumor features are frequently used for selecting breast

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