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New breast cancer gene variants found

Wednesday January 8th, 2020

Hundreds of genetic risk factors for breast cancer have been identified in a large genome-wide association study, British researchers have announced.

It looked at the DNA of about 110,000 breast cancer patients and about 90,000 healthy comparable people and found over 350 DNA variants linked to breast cancer risk. These may influence up to 190 genes, they say.

The results were published last night (7 January) in Nature Genetics.

The international authors, led by Dr Laura Fachal, of the University of Cambridge, UK, explain: “Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions - but the mechanisms underlying risk remain largely unknown.”

They explored these regions by combining genome-wide association analysis with another method called ‘in silico genomic feature annotations’. This process highlighted the gene variants with “high probabilities of being causal” and resulted in “the most comprehensive map of breast cancer risk variants to date”.

Dr Fachal said: “We know from previous studies that variants across our DNA contribute towards breast cancer risk, but only rarely have scientists have been able to identify exactly which genes are involved.

“We need this information as it gives us a better clue to what is driving the disease and hence how we might treat or even prevent it.”

Co-author Dr Alison Dunning added: “This incredible haul of newly-discovered breast cancer genes provides us with many more genes to work on, most of which have not been studied before.

“It will help us build up a much more detailed picture of how breast cancer arises and develops. But the sheer number of genes now known to play a role emphasises how complex the disease is.”

Fachal, L. et al. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nature Genetics 7 January 2020 doi: 10.1038/s41588-019-0537-1

https://www.nature.com/articles/s41588-019-0537-1

Tags: Cancer | Genetics | UK News | Women's Health & Gynaecology

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