New Breast Cancer Risk Loci Discovered
A new study has uncovered 15 new breast cancer risk loci.
Scientists have discovered another 15 genetic ‘hot-spots’ that can increase a woman’s risk of developing breast cancer, according to research published today in Nature Genetics.
In a study funded by Cancer Research UK, scientists compared tiny variations in the genetic make-up of more than 120,000 women of European ancestry, with and without breast cancer, and identified 15 new SNPs that are linked to a higher risk of the disease.
This new discovery means that a total of more than 90 SNPs associated with breast cancer have now been revealed through research.
Study author Professor Doug Easton, professor of genetic epidemiology at the University of Cambridge, said: “Our study is another step towards untangling the breast cancer puzzle. As well as giving us more information about how and why a higher breast cancer risk can be inherited, the genetic markers we found can help us to target screening and cancer prevention measures at those women who need them the most.
“The next bit of solving the puzzle involves research to understand more about how genetic variations work to increase a woman’s risk. And we’re sure there are more of these variations still to be discovered.”
For more on this story, read the full press release via Cancer Research UK.
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10−8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Read the full paper on Nature Genetics.