Gene increases breast cancer risk

4 August 2014

Mutations of a certain gene in the human body can multiply a woman's risk of developing breast cancer significantly, a new study indicates.

A study in the New England Journal of Medicine shows that women with mutations in the PALB2 gene have on average a one in three chance of developing breast cancer by the age of seventy.

In a study run through the international PALB2 Interest Group, a team of researchers from 17 centres in eight countries led by the University of Cambridge analysed data from 154 families without BRCA1 or BRCA2 mutations, which included 362 family members with PALB2 gene mutations.

Women who carried rare mutations in PALB2 were found to have on average a 35 per cent chance of developing breast cancer by the age of 70, though the risks were highly dependent on family history of breast cancer, with carriers having more relatives affected by breast cancer being at higher risk.

Dr Marc Tischkowitz, from the Department of Medical Genetics at the University of Cambridge, who led the study, said that as mutations in this gene are uncommon, obtaining accurate risk figures is only possible through large international collaborations like this.

He added: "Now that we have identified this gene, we are in a position to provide genetic counselling and advice. If a woman is found to carry this mutation, we would recommend additional surveillance, such as MRI breast screening."

Posted by Philip Briggs​


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