Inherited gene fault with link to breast cancer identified

A new study has isolated a specific hereditary gene fault that could be targeted by future breast cancer therapy regimens.

The Cancer Research UK-funded study found that women with the CHEK2*1100delC genetic defect who had the oestrogen-receptor-positive form of breast cancer were more likely to die of the disease.

This genetic variation creates a faulty protein that interrupts a cell's ability to repair damaged DNA, which also makes it more likely that the patient will develop a second case of cancer.

It is thought that more widespread testing for this fault could help identify women who are at greatest risk from their cancers.

Dr Julie Sharp, senior science information manager at Cancer Research UK, said: "Further research needs to be done to see if these women would benefit from long-term treatment with anti-oestrogen drugs, such as tamoxifen, to try and reduce this risk."

Breast cancer is the most common cancer type in the UK, affecting around 48,000 women each year.