Researchers discover ‘treasure trove’ of genes linked to breast cancer

13 Mar 2018

Malignant fluid cytology. Image: David Litman/Shutterstock

One of the most comprehensive genetic studies of breast cancer has discovered a treasure trove of genes linked to the disease, offering hope for future treatments.

Breast cancer remains one of the most highly visible forms of cancer in the public eye, with one in nine women and one in 1,000 men affected by the disease.

Despite this – and millions of euros pumped into it by various research groups and charities – an effective treatment has yet to be developed, leading scientists to turn to analysing its genetics.

By analysing how breast cancer spreads from the very beginning, down to the smallest level, it could be possible to spot it at its earliest stages and hopefully develop the silver bullet needed to treat it.

To that end, scientists from The Institute of Cancer Research (ICR) in London have revealed a major new haul of 110 genes linked to those with an increased risk of breast cancer, in the most comprehensive study ever to unpick the genetics of the disease.

Of that number, 32 were also found to be linked to the length of time women survived breast cancer, suggesting that these could prove crucial in the development of treatments.

In a paper published to Nature Communications, the team detailed how it looked at 63 regions of the genome in detail that had previously been associated with the risk of breast cancer, by mapping studies using a pioneering genetic technique called Capture Hi-C.

Some of the regions of the genome, the study found, were physically interacting with genes more than 1m letters of DNA code away.

One-third of the target genes for which they had patient data – 32 out of 97 – were also linked to survival in women with oestrogen receptor-positive breast cancer, suggesting they play an important role in the disease.

‘These are really important findings’

Most of the 110 genes analysed as part of the study had never been linked to breast cancer before, and further work will be needed to determine the extent of their role in the disease.

In particular, one called FADD had been linked to head and neck cancer as well as lung cancer, and could be a promising target for new cancer therapies.

14 genes, however, have been linked before to breast cancer, such as the oestrogen receptor gene ESR1, showing that Capture Hi-C is an effective tool for picking up risk genes.

Delyth Morgan, chief executive of Breast Cancer Now, which funded the study, said: “These are really important findings. We urgently need to unravel how the genetic changes in the building blocks of our DNA influence a woman’s risk of breast cancer, and this study adds another vital piece to this jigsaw.

“More women are now being diagnosed with breast cancer than ever before, and these crucial findings could ultimately help us more accurately predict who is most at risk, and develop new targeted treatments.”

Colm Gorey was a senior journalist with Silicon Republic