Studies Spell Out Common, Rare Variants Contributing to Breast Cancer Susceptibility

NEW YORK (GenomeWeb) – Several new studies are pointing out the sites in the genome marked by variants that contribute to breast cancer susceptibility.

For the first of the studies, appearing online today in Nature, an international team led by investigators in the UK, the US, and Canada reported on findings from a genome-wide association study involving hundreds of thousands of individuals of European or East Asian ancestry with or without breast cancer.

When they compared array-genotyped and imputed SNP patterns for 122,977 individuals with breast cancer and 105,974 unaffected controls, the researchers found potential associations at known and new risk loci. Their follow-up analyses in 14,068 East Asian individuals with and without breast cancer validated dozens of loci that had previously been linked to breast cancer, and highlighted significant associations at 65 loci.

Using a new computational pipeline called INQUISIT, the team tapped into existing chromatin immunoprecipitation sequence, RNA sequence, and other breast cell genomic data to get a glimpse at functional variants at the risk loci — an analysis that led to apparent regulatory regions and candidate genes prone to somatic mutation in breast cancer.

“The majority of credible risk single nucleotide polymorphisms in these loci fall in

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