Genetic study reveals genetic variants that would improve breast cancer screening

A large-scale genetic study has identified 65 new genetic variants that increase the risk of breast cancer. Published online 23 Oct. 2017 in Nature, the study (Association analysis identifies 65 new breast cancer risk loci) would one day improve screening, diagnosis and treatment for this common type of cancer among women. The study is carried out by a lot of researchers from different countries, and its corresponding author is Dr. Douglas Easton, professor of genetic epidemiology at the University of Cambridge.

Breast cancer has already been linked with certain genes, including BRCA1 and BRCA2. Abnormal BRCA1 and BRCA2 account for most inherited cases of breast cancer. Only 5-10% of all breast cancer cases are inherited, while other breast cancer cases are connected with somatic mutations in breast cells that are acquired during an individual's lifetime. Breast cancer is a result of a combination of genetic and environmental factors. Much is still unknown about the genetic contribution to breast cancer risk. To address this issue, Dr. Easton and his team collaborated with several other research teams.

They performed a genome-wide association study (GWAS) in breast cancer patients and controls of either European or East Asian ancestry. More than 250,000 breast cancer patients and controls were enrolled in the study. The GWAS results revealed 65 new loci that correlate with overall breast cancer risk. Most of these loci are not in genes, but in distal regulatory elements that control gene expression. Further investigation allowed the researchers to predict candidate target genes. Notably, many of these genes are those that mutate when a breast tumor develops.

Together, these findings greatly extend the understanding of genetic susceptibility to breast cancer. The newly identified genetic variants will help to predict which people are at elevated risk of having breast cancer. Although each genetic variant might only produce a very small risk, combinations of distinct genetic variants would have significant effects.
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